메뉴 건너뛰기




Volumn 49, Issue 2, 2004, Pages 214-230

X-linked retinoschisis: A clinical and molecular genetic review

Author keywords

Macular degeneration; Retina; Strabismus; X linked retinoschis

Indexed keywords

AMBLYOPIA; CELL INTERACTION; CELL POLARITY; CLINICAL FEATURE; DIAGNOSTIC ACCURACY; GENETIC ANALYSIS; GENETIC CODE; GENETIC VARIABILITY; HUMAN; MOLECULAR GENETICS; PHENOTYPE; PHOTORECEPTOR; PRIORITY JOURNAL; PROGNOSIS; RETINA; RETINA MACULA DEGENERATION; RETINOSCHISIS; REVIEW; SURGICAL TECHNIQUE; X CHROMOSOME LINKED DISORDER;

EID: 1542361510     PISSN: 00396257     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.survophthal.2003.12.007     Document Type: Review
Times cited : (186)

References (202)
  • 1
    • 0033861811 scopus 로고    scopus 로고
    • Temporal frequency deficits in the electroretinogram of the cone system in X-linked retinoschisis
    • Alexander K.R., Fishman G.A., Grover S. Temporal frequency deficits in the electroretinogram of the cone system in X-linked retinoschisis. Vision Res. 40:2000;2861-2868.
    • (2000) Vision Res , vol.40 , pp. 2861-2868
    • Alexander, K.R.1    Fishman, G.A.2    Grover, S.3
  • 2
    • 0034909928 scopus 로고    scopus 로고
    • High-frequency attenuation of the cone ERG and ON-response deficits in X-linked retinoschisis
    • Alexander K.R., Barnes C.S., Fishman G.A. High-frequency attenuation of the cone ERG and ON-response deficits in X-linked retinoschisis. Invest Ophthalmol Vis Sci. 42:2001;2094-2101.
    • (2001) Invest Ophthalmol Vis Sci , vol.42 , pp. 2094-2101
    • Alexander, K.R.1    Barnes, C.S.2    Fishman, G.A.3
  • 3
    • 0036676676 scopus 로고    scopus 로고
    • [No X-chromosome linked juvenile foveal retinoschisis]
    • Alvarez P., Fernandez F. [No X-chromosome linked juvenile foveal retinoschisis]. Arch Soc Esp Oftalmol. 77:2002;443-448.
    • (2002) Arch Soc Esp Oftalmol , vol.77 , pp. 443-448
    • Alvarez, P.1    Fernandez, F.2
  • 4
    • 0034061098 scopus 로고    scopus 로고
    • Histopathological findings of X-linked retinoschisis with neovascular glaucoma
    • Ando A., Takahashi K., Sho K., et al. Histopathological findings of X-linked retinoschisis with neovascular glaucoma. Graefes Arch Clin Exp Ophthalmol. 238:2000;1-7.
    • (2000) Graefes Arch Clin Exp Ophthalmol , vol.238 , pp. 1-7
    • Ando, A.1    Takahashi, K.2    Sho, K.3
  • 5
    • 0023926821 scopus 로고
    • Detection of the carrier state of X-linked retinoschisis
    • Arden G.B., Gorin M.B., Polkinghorne P.J., et al. Detection of the carrier state of X-linked retinoschisis. Am J Ophthalmol. 105:1988;590-595.
    • (1988) Am J Ophthalmol , vol.105 , pp. 590-595
    • Arden, G.B.1    Gorin, M.B.2    Polkinghorne, P.J.3
  • 6
    • 0030905216 scopus 로고    scopus 로고
    • OCT images and surgery of juvenile macular retinoschisis
    • Azzolini C., Pierro L., Codenotti M., et al. OCT images and surgery of juvenile macular retinoschisis. Eur J Ophthalmol. 7:1997;196-200.
    • (1997) Eur J Ophthalmol , vol.7 , pp. 196-200
    • Azzolini, C.1    Pierro, L.2    Codenotti, M.3
  • 7
    • 0342896563 scopus 로고
    • Congenital vascular veils in the vitreous
    • Balian J.V., Falls H.F. Congenital vascular veils in the vitreous. Arch Ophthalmol. 63:1960;92-101.
    • (1960) Arch Ophthalmol , vol.63 , pp. 92-101
    • Balian, J.V.1    Falls, H.F.2
  • 8
    • 0032986595 scopus 로고    scopus 로고
    • Clinical applications of optical coherence tomography
    • Baumal C.R. Clinical applications of optical coherence tomography. Curr Opin Ophthalmol. 10:1999;182-188.
    • (1999) Curr Opin Ophthalmol , vol.10 , pp. 182-188
    • Baumal, C.R.1
  • 9
    • 0031826798 scopus 로고    scopus 로고
    • The discoidin domain family revisited: New members from prokaryotes and a homology-based fold prediction
    • Baumgartner S., Hoffmann K., Chiquet-Ehrismann R., et al. The discoidin domain family revisited: new members from prokaryotes and a homology-based fold prediction. Protein Sci. 7:1998;1626-1631.
    • (1998) Protein Sci , vol.7 , pp. 1626-1631
    • Baumgartner, S.1    Hoffmann, K.2    Chiquet-Ehrismann, R.3
  • 10
    • 0014038846 scopus 로고
    • Sex-linked hereditary juvenile retinoschisis: Presentation of two affected families
    • Bengtsson B., Linder B. Sex-linked hereditary juvenile retinoschisis: presentation of two affected families. Acta Ophthalmol (Copenh). 45:1967;411-423.
    • (1967) Acta Ophthalmol (Copenh) , vol.45 , pp. 411-423
    • Bengtsson, B.1    Linder, B.2
  • 11
    • 0036260380 scopus 로고    scopus 로고
    • Macular retinoschisis in highly myopic eyes
    • Benhamou N., Massin P., Haouchine B., et al. Macular retinoschisis in highly myopic eyes. Am J Ophthalmol. 133:2002;794-800.
    • (2002) Am J Ophthalmol , vol.133 , pp. 794-800
    • Benhamou, N.1    Massin, P.2    Haouchine, B.3
  • 12
    • 0019846694 scopus 로고
    • Blindness in Iceland
    • Bjornsson G. Blindness in Iceland. Acta Ophthalmol. 59:1979;921-927.
    • (1979) Acta Ophthalmol , vol.59 , pp. 921-927
    • Bjornsson, G.1
  • 13
    • 0027967450 scopus 로고
    • The molecular biology of Norrie's disease
    • Black G., Redmond R.M. The molecular biology of Norrie's disease. Eye. 8:1994;491-496.
    • (1994) Eye , vol.8 , pp. 491-496
    • Black, G.1    Redmond, R.M.2
  • 14
    • 85069064103 scopus 로고    scopus 로고
    • A manifesting female heterozygote in X-linked retinoschisis: Clinical and genetic study
    • [ARVO abstract]
    • Booth A.P., Trump D., George N.D. A manifesting female heterozygote in X-linked retinoschisis: clinical and genetic study. [ARVO abstract] Invest Ophthalmol Vis Sci. 44:2003;1484.
    • (2003) Invest Ophthalmol Vis Sci , vol.44 , pp. 1484
    • Booth, A.P.1    Trump, D.2    George, N.D.3
  • 15
    • 0021744607 scopus 로고
    • [Idiopathic macular retinoschisis in the young subject associated with preretinal and prepapillary neovessels]
    • Brancato R., Menchini U., Pece A. [Idiopathic macular retinoschisis in the young subject associated with preretinal and prepapillary neovessels]. J Fr Ophtalmol. 7:1984;685-688.
    • (1984) J Fr Ophtalmol , vol.7 , pp. 685-688
    • Brancato, R.1    Menchini, U.2    Pece, A.3
  • 16
    • 0014835692 scopus 로고
    • Photocoagulation in congenital retinoschisis
    • Brockhurst R.J. Photocoagulation in congenital retinoschisis. Arch Ophthalmol. 84:1970;158-165.
    • (1970) Arch Ophthalmol , vol.84 , pp. 158-165
    • Brockhurst, R.J.1
  • 17
    • 0019784890 scopus 로고
    • Retinoschisis. Complication of peripheral uveitis
    • Brockhurst R.J. Retinoschisis. Complication of peripheral uveitis. Arch Ophthalmol. 99:1981;1998-1999.
    • (1981) Arch Ophthalmol , vol.99 , pp. 1998-1999
    • Brockhurst, R.J.1
  • 18
    • 0003893981 scopus 로고
    • Excavated and colobomatous defects
    • G.B. Brown, & W. Tasman. New York: Grune and Stratton
    • Brown G.B., Tasman W. Excavated and colobomatous defects. Brown G.B., Tasman W. Congenital anomalies of the optic disc. 1983;97 Grune and Stratton, New York.
    • (1983) Congenital Anomalies of the Optic Disc , pp. 97
    • Brown, G.B.1    Tasman, W.2
  • 19
    • 0018862364 scopus 로고
    • Congenital pits of the optic nerve head and colobomas
    • Brown G.C., Augsburger J.J. Congenital pits of the optic nerve head and colobomas. Can J Ophthalmol. 15:1980;144-146.
    • (1980) Can J Ophthalmol , vol.15 , pp. 144-146
    • Brown, G.C.1    Augsburger, J.J.2
  • 20
    • 0033030082 scopus 로고    scopus 로고
    • Optic disc neovascularization following severe retinoschisis due to shaken baby syndrome
    • Brown S.M., Shami M. Optic disc neovascularization following severe retinoschisis due to shaken baby syndrome. Arch Ophthalmol. 117:1999;838-839.
    • (1999) Arch Ophthalmol , vol.117 , pp. 838-839
    • Brown, S.M.1    Shami, M.2
  • 21
    • 0022975182 scopus 로고
    • Long-term natural history study of senile retinoschisis with implications for management
    • Byer N.E. Long-term natural history study of senile retinoschisis with implications for management. Ophthalmology. 93:1986;1127-1137.
    • (1986) Ophthalmology , vol.93 , pp. 1127-1137
    • Byer, N.E.1
  • 22
    • 0017051492 scopus 로고
    • Fluorescein angiographic findings in familial exudative vitreoretinopathy
    • Canny C.L., Oliver G.L. Fluorescein angiographic findings in familial exudative vitreoretinopathy. Arch Ophthalmol. 94:1976;1114-1120.
    • (1976) Arch Ophthalmol , vol.94 , pp. 1114-1120
    • Canny, C.L.1    Oliver, G.L.2
  • 23
    • 0014831587 scopus 로고
    • Incontinenta pigmenti: A world statistical analysis
    • Carney R.G. Incontinenta pigmenti: a world statistical analysis. Arch Dermatol. 112:1970;157-162.
    • (1970) Arch Dermatol , vol.112 , pp. 157-162
    • Carney, R.G.1
  • 24
    • 0025381707 scopus 로고
    • [Photocoagulation in sex-linked heredofamilial retinoschisis]
    • Castier P., Turut P., Francois P., et al. [Photocoagulation in sex-linked heredofamilial retinoschisis]. Bull Soc Ophtalmol Fr. 90:1990;149-152.
    • (1990) Bull Soc Ophtalmol Fr , vol.90 , pp. 149-152
    • Castier, P.1    Turut, P.2    Francois, P.3
  • 25
    • 0027367772 scopus 로고
    • A mutation in the Norrie disease gene (NDP) associated with X-linked familial exudative vitreoretinopathy
    • Chen Z.Y., Battinelli E.M., Fielder A., et al. A mutation in the Norrie disease gene (NDP) associated with X-linked familial exudative vitreoretinopathy. Nat Genet. 5:1993;180-183.
    • (1993) Nat Genet , vol.5 , pp. 180-183
    • Chen, Z.Y.1    Battinelli, E.M.2    Fielder, A.3
  • 26
    • 0022558970 scopus 로고
    • Congenital hereditary (juvenile X-linked) retinoschisis. Histopathologic and ultrastructural findings in three eyes
    • Condon G.P., Brownstein S., Wang N.S., et al. Congenital hereditary (juvenile X-linked) retinoschisis. Histopathologic and ultrastructural findings in three eyes. Arch Ophthalmol. 104:1986;576-583.
    • (1986) Arch Ophthalmol , vol.104 , pp. 576-583
    • Condon, G.P.1    Brownstein, S.2    Wang, N.S.3
  • 27
    • 7144253129 scopus 로고    scopus 로고
    • Functional implications of the spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis
    • Consortium R. Functional implications of the spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis. Hum Mol Genet. 7:1998;1185-1192.
    • (1998) Hum Mol Genet , vol.7 , pp. 1185-1192
    • Consortium, R.1
  • 28
    • 0017625929 scopus 로고
    • X-chromosone-linked juvenile retinoschisis with hemorrhagic retinal cyst
    • Conway B.P., Welch R.B. X-chromosone-linked juvenile retinoschisis with hemorrhagic retinal cyst. Am J Ophthalmol. 83:1977;853-855.
    • (1977) Am J Ophthalmol , vol.83 , pp. 853-855
    • Conway, B.P.1    Welch, R.B.2
  • 29
    • 0014594475 scopus 로고
    • Familial exudative vitreoretinopathy
    • Criswick V.G., Schepens C.L. Familial exudative vitreoretinopathy. Am J Ophthalmol. 68:1969;578-594.
    • (1969) Am J Ophthalmol , vol.68 , pp. 578-594
    • Criswick, V.G.1    Schepens, C.L.2
  • 30
    • 0035824637 scopus 로고    scopus 로고
    • Mapping of epitopes in discoidin domain receptor 1 critical for collagen binding
    • Curat C.A., Eck M., Dervillez X., et al. Mapping of epitopes in discoidin domain receptor 1 critical for collagen binding. J Biol Chem. 276:2001;45952-45958.
    • (2001) J Biol Chem , vol.276 , pp. 45952-45958
    • Curat, C.A.1    Eck, M.2    Dervillez, X.3
  • 31
    • 0026411121 scopus 로고
    • Mizuo phenomenon in X-linked retinoschisis. Pathogenesis of the Mizuo phenomenon
    • de Jong P.T., Zrenner E., van Meel G.J., et al. Mizuo phenomenon in X-linked retinoschisis. Pathogenesis of the Mizuo phenomenon. Arch Ophthalmol. 109:1991;1104-1108.
    • (1991) Arch Ophthalmol , vol.109 , pp. 1104-1108
    • De Jong, P.T.1    Zrenner, E.2    Van Meel, G.J.3
  • 33
    • 0034442008 scopus 로고    scopus 로고
    • Unilateral retinoschisis in fetal alcohol syndrome
    • Desai U.R., Raman V.R., Dennehy P. Unilateral retinoschisis in fetal alcohol syndrome. Retina. 20:2000;676-678.
    • (2000) Retina , vol.20 , pp. 676-678
    • Desai, U.R.1    Raman, V.R.2    Dennehy, P.3
  • 37
    • 0027212143 scopus 로고
    • Familial exudative vitreoretinopathy
    • Ebert E.M., Mukai S. Familial exudative vitreoretinopathy. Int Ophthalmol Clin. 33:1993;237-247.
    • (1993) Int Ophthalmol Clin , vol.33 , pp. 237-247
    • Ebert, E.M.1    Mukai, S.2
  • 38
    • 0033880515 scopus 로고    scopus 로고
    • Phenotypic expression of juvenile X-linked retinoschisis in Swedish families with different mutations in the XLRS1 gene
    • Eksandh L.C., Ponjavic V., Ayyagari R., et al. Phenotypic expression of juvenile X-linked retinoschisis in Swedish families with different mutations in the XLRS1 gene. Arch Ophthalmol. 118:2000;1098-1104.
    • (2000) Arch Ophthalmol , vol.118 , pp. 1098-1104
    • Eksandh, L.C.1    Ponjavic, V.2    Ayyagari, R.3
  • 39
    • 0025125017 scopus 로고
    • Ocular and associated systemic findings in suspected child abuse. A necropsy study
    • Elner S.G., Elner V.M., Arnall M., et al. Ocular and associated systemic findings in suspected child abuse. A necropsy study. Arch Ophthalmol. 108:1990;1094-1101.
    • (1990) Arch Ophthalmol , vol.108 , pp. 1094-1101
    • Elner, S.G.1    Elner, V.M.2    Arnall, M.3
  • 40
    • 0031917832 scopus 로고    scopus 로고
    • Molecular cloning and characterization of P47, a novel boar sperm-associated zona pellucida-binding protein homologous to a family of mammalian secretory proteins
    • Ensslin M., Vogel T., Calvete J.J., et al. Molecular cloning and characterization of P47, a novel boar sperm-associated zona pellucida-binding protein homologous to a family of mammalian secretory proteins. Biol Reprod. 58:1998;1057-1064.
    • (1998) Biol Reprod , vol.58 , pp. 1057-1064
    • Ensslin, M.1    Vogel, T.2    Calvete, J.J.3
  • 43
    • 0015263651 scopus 로고
    • Fluorescein angiography in X-chromosomal maculopathy with retinoschisis (juvenile hereditary retinoschisis)
    • Ewing C.C., Cullen A.P. Fluorescein angiography in X-chromosomal maculopathy with retinoschisis (juvenile hereditary retinoschisis). Can J Ophthalmol. 7:1972;19-28.
    • (1972) Can J Ophthalmol , vol.7 , pp. 19-28
    • Ewing, C.C.1    Cullen, A.P.2
  • 44
    • 0027295031 scopus 로고
    • X-chromosome-linked juvenile retinoschisis: Clinical aspects and genetics
    • Falcone P.M., Brockhurst R.J. X-chromosome-linked juvenile retinoschisis: clinical aspects and genetics. Int Ophthalmol Clin. 33:1993;193-202.
    • (1993) Int Ophthalmol Clin , vol.33 , pp. 193-202
    • Falcone, P.M.1    Brockhurst, R.J.2
  • 45
    • 84924636477 scopus 로고
    • A propos de deux cas de degenerescence hyaloideoretinienne
    • Favre M. A propos de deux cas de degenerescence hyaloideoretinienne. Ophthalmologica. 135:1958;604-609.
    • (1958) Ophthalmologica , vol.135 , pp. 604-609
    • Favre, M.1
  • 46
    • 0031004024 scopus 로고    scopus 로고
    • Vitreoretinal surgery for complications of congenital retinoschisis
    • Ferrone P.J., Trese M.T., Lewis H. Vitreoretinal surgery for complications of congenital retinoschisis. Am J Ophthalmol. 123:1997;742-747.
    • (1997) Am J Ophthalmol , vol.123 , pp. 742-747
    • Ferrone, P.J.1    Trese, M.T.2    Lewis, H.3
  • 48
    • 0017186437 scopus 로고
    • Diagnostic features of the Favre-Goldmann syndrome
    • Fishman G.A., Jampol L.M., Goldberg M.F. Diagnostic features of the Favre-Goldmann syndrome. Br J Ophthalmol. 60:1976;345-353.
    • (1976) Br J Ophthalmol , vol.60 , pp. 345-353
    • Fishman, G.A.1    Jampol, L.M.2    Goldberg, M.F.3
  • 51
    • 0015813014 scopus 로고
    • Visual acuity in 183 cases of X-chromosomal retinoschisis
    • Forsius H., Krause U., Helve J., et al. Visual acuity in 183 cases of X-chromosomal retinoschisis. Can J Ophthalmol. 8:1973;385-393.
    • (1973) Can J Ophthalmol , vol.8 , pp. 385-393
    • Forsius, H.1    Krause, U.2    Helve, J.3
  • 52
    • 0024761391 scopus 로고
    • [Results of peripheral retinoschisis treatment in sex-linked congenital retinoschisis]
    • Francois P., Turut P., Leguern J.Y., et al. [Results of peripheral retinoschisis treatment in sex-linked congenital retinoschisis]. Bull Soc Ophtalmol Fr. 89:1989;1239-1244.
    • (1989) Bull Soc Ophtalmol Fr , vol.89 , pp. 1239-1244
    • Francois, P.1    Turut, P.2    Leguern, J.Y.3
  • 53
    • 0015853466 scopus 로고
    • Nicotinic acid maculopathy
    • Gass J.D. Nicotinic acid maculopathy. Am J Ophthalmol. 76:1973;500-510.
    • (1973) Am J Ophthalmol , vol.76 , pp. 500-510
    • Gass, J.D.1
  • 56
    • 0032588081 scopus 로고    scopus 로고
    • Muller cell cone, an overlooked part of the anatomy of the fovea centralis: Hypotheses concerning its role in the pathogenesis of macular hole and foveomacualr retinoschisis
    • Gass J.D. Muller cell cone, an overlooked part of the anatomy of the fovea centralis: hypotheses concerning its role in the pathogenesis of macular hole and foveomacualr retinoschisis. Arch Ophthalmol. 117:1999;821-823.
    • (1999) Arch Ophthalmol , vol.117 , pp. 821-823
    • Gass, J.D.1
  • 57
    • 0032801812 scopus 로고    scopus 로고
    • Assessment of RS1 in X-linked juvenile retinoschisis and sporadic senile retinoschisis
    • Gehrig A., White K., Lorenz B., et al. Assessment of RS1 in X-linked juvenile retinoschisis and sporadic senile retinoschisis. Clin Genet. 55:1999;461-465.
    • (1999) Clin Genet , vol.55 , pp. 461-465
    • Gehrig, A.1    White, K.2    Lorenz, B.3
  • 58
  • 60
    • 0029123920 scopus 로고
    • Infantile presentation of X linked retinoschisis
    • George N.D., Yates J.R., Bradshaw K., et al. Infantile presentation of X linked retinoschisis. Br J Ophthalmol. 79:1995;653-657.
    • (1995) Br J Ophthalmol , vol.79 , pp. 653-657
    • George, N.D.1    Yates, J.R.2    Bradshaw, K.3
  • 61
    • 0029980311 scopus 로고    scopus 로고
    • Clinical features in affected males with X-linked retinoschisis
    • George N.D., Yates J.R., Moore A.T. Clinical features in affected males with X-linked retinoschisis. Arch Ophthalmol. 114:1996;274-280.
    • (1996) Arch Ophthalmol , vol.114 , pp. 274-280
    • George, N.D.1    Yates, J.R.2    Moore, A.T.3
  • 63
    • 0026289067 scopus 로고
    • Hemorrhagic retinal macrocysts in advanced Coats' disease
    • Goel S.D., Augsburger J.J. Hemorrhagic retinal macrocysts in advanced Coats' disease. Retina. 11:1991;437-440.
    • (1991) Retina , vol.11 , pp. 437-440
    • Goel, S.D.1    Augsburger, J.J.2
  • 65
    • 0001104505 scopus 로고
    • Sex-linked ocular disorders: Trait expressivity in males and carrier females
    • Goodman G., Ripps H., Siegel I.M. Sex-linked ocular disorders: trait expressivity in males and carrier females. Arch Ophthalmol. 73:1965;387-398.
    • (1965) Arch Ophthalmol , vol.73 , pp. 387-398
    • Goodman, G.1    Ripps, H.2    Siegel, I.M.3
  • 66
    • 0015106895 scopus 로고
    • Familial exudative vitreoretinopathy: An expanded view
    • Gow J., Oliver G.L. Familial exudative vitreoretinopathy: an expanded view. Arch Ophthalmol. 86:1971;150-155.
    • (1971) Arch Ophthalmol , vol.86 , pp. 150-155
    • Gow, J.1    Oliver, G.L.2
  • 67
    • 0033860197 scopus 로고    scopus 로고
    • Retinoschisin, the X-linked retinoschisis protein, is a secreted photoreceptor protein, and is expressed and released by Weri-Rb1 cells
    • Grayson C., Reid S.N., Ellis J.A., et al. Retinoschisin, the X-linked retinoschisis protein, is a secreted photoreceptor protein, and is expressed and released by Weri-Rb1 cells. Hum Mol Genet. 9:2000;1873-1879.
    • (2000) Hum Mol Genet , vol.9 , pp. 1873-1879
    • Grayson, C.1    Reid, S.N.2    Ellis, J.A.3
  • 68
    • 0018377124 scopus 로고
    • Vascular opacification and leakage in X-linked (juvenile) retinoschisis
    • Green J.L. Jr., Jampol L.M. Vascular opacification and leakage in X-linked (juvenile) retinoschisis. Br J Ophthalmol. 63:1979;368-373.
    • (1979) Br J Ophthalmol , vol.63 , pp. 368-373
    • Green Jr., J.L.1    Jampol, L.M.2
  • 69
    • 0022450436 scopus 로고
    • Traumatic retinoschisis in battered babies
    • Greenwald M.J., Weiss A., Oesterle C.S., et al. Traumatic retinoschisis in battered babies. Ophthalmology. 93:1986;618-625.
    • (1986) Ophthalmology , vol.93 , pp. 618-625
    • Greenwald, M.J.1    Weiss, A.2    Oesterle, C.S.3
  • 70
    • 0025561525 scopus 로고
    • Unusual manifestations of X-linked retinoschisis
    • discussion 226-8
    • Greven C.M., Moreno R.J., Tasman W. Unusual manifestations of X-linked retinoschisis. Trans Am Ophthalmol Soc. 88:1990;211-225. discussion 226-8.
    • (1990) Trans Am Ophthalmol Soc , vol.88 , pp. 211-225
    • Greven, C.M.1    Moreno, R.J.2    Tasman, W.3
  • 71
    • 0001513316 scopus 로고
    • Ueber dasa Zusammenvorkommen von Veranderugen der retina und Choroidea
    • Haas J. Ueber dasa Zusammenvorkommen von Veranderugen der retina und Choroidea. Arch Augenheikd. 37:1898;343-348.
    • (1898) Arch Augenheikd , vol.37 , pp. 343-348
    • Haas, J.1
  • 72
    • 0018165133 scopus 로고
    • Persistent hyperplastic primary vitreous. A clinicopathologic study of 62 cases and review of the literature
    • Haddad R., Font R.L., Reeser F. Persistent hyperplastic primary vitreous. A clinicopathologic study of 62 cases and review of the literature. Surv Ophthalmol. 23:1978;123-134.
    • (1978) Surv Ophthalmol , vol.23 , pp. 123-134
    • Haddad, R.1    Font, R.L.2    Reeser, F.3
  • 73
    • 0033975061 scopus 로고    scopus 로고
    • Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate
    • Haider N.B., Jacobson S.G., Cideciyan A.V., et al. Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate. Nat Genet. 24:2000;127-131.
    • (2000) Nat Genet , vol.24 , pp. 127-131
    • Haider, N.B.1    Jacobson, S.G.2    Cideciyan, A.V.3
  • 75
    • 0024659068 scopus 로고
    • [A case of congenital retinoschisis in a 34-week gestation female infant]
    • Hamaguchi H., Wada I., Takigawa J., et al. [A case of congenital retinoschisis in a 34-week gestation female infant]. Nippon Ganka Gakkai Zasshi. 93:1989;575-580.
    • (1989) Nippon Ganka Gakkai Zasshi , vol.93 , pp. 575-580
    • Hamaguchi, H.1    Wada, I.2    Takigawa, J.3
  • 76
    • 0023893045 scopus 로고
    • Foveal retinoschisis associated with senile retinoschisis in a woman
    • Han D.P., Sieving P.A., Johnson M.W., et al. Foveal retinoschisis associated with senile retinoschisis in a woman. Am J Ophthalmol. 106:1988;107-109.
    • (1988) Am J Ophthalmol , vol.106 , pp. 107-109
    • Han, D.P.1    Sieving, P.A.2    Johnson, M.W.3
  • 77
    • 0001784666 scopus 로고
    • Choiroideremia
    • J.R. Heckenlively. Philadelphia: JB Lippincott
    • Heckenlively J.R., Bird A.C. Choiroideremia. Heckenlively J.R. Retinitis Pigmentosa. 1988;176-187 JB Lippincott, Philadelphia.
    • (1988) Retinitis Pigmentosa , pp. 176-187
    • Heckenlively, J.R.1    Bird, A.C.2
  • 78
    • 0018371672 scopus 로고
    • [Clinical and electroophthalmologic findings in x-chromosomal juvenile retinoschisis]
    • Heilig P. [Clinical and electroophthalmologic findings in x-chromosomal juvenile retinoschisis]. Fortschr Med. 97:1979;334.
    • (1979) Fortschr Med , vol.97 , pp. 334
    • Heilig, P.1
  • 79
    • 15444354665 scopus 로고    scopus 로고
    • Cloning and characterization of developmental endothelial locus -1: An embryonic endothelial cell protein that binds to the αvβ3 integrin receptor
    • Hidai C., Zupancic T., Penta K., et al. Cloning and characterization of developmental endothelial locus -1: an embryonic endothelial cell protein that binds to the αvβ3 integrin receptor. Genes Dev. 12:1998;21-33.
    • (1998) Genes Dev , vol.12 , pp. 21-33
    • Hidai, C.1    Zupancic, T.2    Penta, K.3
  • 80
    • 0000772755 scopus 로고
    • Electrophysiological and psychophysical studies in congenital retinoschisis of X-linked inheritance
    • Hirose T., Wolf E., Hara A. Electrophysiological and psychophysical studies in congenital retinoschisis of X-linked inheritance. Doc Ophthalmol Proc Ser. 13:1977;173-184.
    • (1977) Doc Ophthalmol Proc Ser , vol.13 , pp. 173-184
    • Hirose, T.1    Wolf, E.2    Hara, A.3
  • 81
    • 0020315932 scopus 로고
    • A family of foveal retinoschisis including a female with Turner's syndrome
    • Hommura S., Nakano H. A family of foveal retinoschisis including a female with Turner's syndrome. Jpn J Clin Ophthalmol. 36:1982;291.
    • (1982) Jpn J Clin Ophthalmol , vol.36 , pp. 291
    • Hommura, S.1    Nakano, H.2
  • 82
    • 0035135735 scopus 로고    scopus 로고
    • Different mutation of the XLRS1 gene causes juvenile retinoschisis with retinal white flecks
    • Hotta Y., Nakamura M., Okamoto Y., et al. Different mutation of the XLRS1 gene causes juvenile retinoschisis with retinal white flecks. Br J Ophthalmol. 85:2001;238-239.
    • (2001) Br J Ophthalmol , vol.85 , pp. 238-239
    • Hotta, Y.1    Nakamura, M.2    Okamoto, Y.3
  • 83
    • 0019195234 scopus 로고
    • Neovascular glaucoma in a patient with X-linked juvenile retinoschisis
    • Hung J.Y., Hilton G.F. Neovascular glaucoma in a patient with X-linked juvenile retinoschisis. Ann Ophthalmol. 12:1980;1054-1055.
    • (1980) Ann Ophthalmol , vol.12 , pp. 1054-1055
    • Hung, J.Y.1    Hilton, G.F.2
  • 84
    • 0033495922 scopus 로고    scopus 로고
    • Skewed secondary sex ratio in the offspring of carriers of the 214G > a mutation of the RS1 gene
    • Huopaniemi L., Fellman J., Rantala A., et al. Skewed secondary sex ratio in the offspring of carriers of the 214G > A mutation of the RS1 gene. Ann Hum Genet. 63:1999;521-533.
    • (1999) Ann Hum Genet , vol.63 , pp. 521-533
    • Huopaniemi, L.1    Fellman, J.2    Rantala, A.3
  • 85
    • 0032945504 scopus 로고    scopus 로고
    • Three widespread founder mutations contribute to high incidence of X-linked juvenile retinoschisis in Finland
    • Huopaniemi L., Rantala A., Forsius H., et al. Three widespread founder mutations contribute to high incidence of X-linked juvenile retinoschisis in Finland. Eur J Hum Genet. 7:1999;368-376.
    • (1999) Eur J Hum Genet , vol.7 , pp. 368-376
    • Huopaniemi, L.1    Rantala, A.2    Forsius, H.3
  • 89
    • 0033989402 scopus 로고    scopus 로고
    • X-linked retinoschisis with point mutations in the XLRS1 gene
    • Inoue Y., Yamamoto S., Okada M., et al. X-linked retinoschisis with point mutations in the XLRS1 gene. Arch Ophthalmol. 118:2000;93-96.
    • (2000) Arch Ophthalmol , vol.118 , pp. 93-96
    • Inoue, Y.1    Yamamoto, S.2    Okada, M.3
  • 90
    • 0033497521 scopus 로고    scopus 로고
    • Differentiation of degenerative retinoschisis from retinal detachment using optical coherence tomography
    • Ip M., Garza-Karren C., Duker J.S., et al. Differentiation of degenerative retinoschisis from retinal detachment using optical coherence tomography. Ophthalmology. 106:1999;600-605.
    • (1999) Ophthalmology , vol.106 , pp. 600-605
    • Ip, M.1    Garza-Karren, C.2    Duker, J.S.3
  • 91
    • 0023483418 scopus 로고
    • Stage 5 retinopathy of prematurity. Prognostic value of morphologic findings
    • Jabbour N.M., Eller A.E., Hirose T., et al. Stage 5 retinopathy of prematurity. Prognostic value of morphologic findings. Ophthalmology. 94:1987;1640-1646.
    • (1987) Ophthalmology , vol.94 , pp. 1640-1646
    • Jabbour, N.M.1    Eller, A.E.2    Hirose, T.3
  • 92
    • 0025284490 scopus 로고
    • SWS (blue) cone hypersensitivity in a newly identified retinal degeneration
    • Jacobson S.G., Marmor M.F., Kemp C.M., et al. SWS (blue) cone hypersensitivity in a newly identified retinal degeneration. Invest Ophthalmol Vis Sci. 31:1990;827-838.
    • (1990) Invest Ophthalmol Vis Sci , vol.31 , pp. 827-838
    • Jacobson, S.G.1    Marmor, M.F.2    Kemp, C.M.3
  • 93
    • 0025817471 scopus 로고
    • Relatively enhanced S cone function in the Goldmann-Favre syndrome
    • Jacobson S.G., Roman A.J., Roman M.I., et al. Relatively enhanced S cone function in the Goldmann-Favre syndrome. Am J Ophthalmol. 111:1991;446-453.
    • (1991) Am J Ophthalmol , vol.111 , pp. 446-453
    • Jacobson, S.G.1    Roman, A.J.2    Roman, M.I.3
  • 94
    • 0342462484 scopus 로고
    • A hereditary retinal disease
    • Jager G.M. A hereditary retinal disease. Trans Ophthalmol Soc UK. 73:1953;617-619.
    • (1953) Trans Ophthalmol Soc UK , vol.73 , pp. 617-619
    • Jager, G.M.1
  • 96
    • 0030765801 scopus 로고    scopus 로고
    • [A case of congenital retinoschisis with unexpected appearance and spontaneous regression]
    • Kageyama M., Nakatsuka K., Miyake Y. [A case of congenital retinoschisis with unexpected appearance and spontaneous regression]. Nippon Ganka Gakkai Zasshi. 101:1997;698-702.
    • (1997) Nippon Ganka Gakkai Zasshi , vol.101 , pp. 698-702
    • Kageyama, M.1    Nakatsuka, K.2    Miyake, Y.3
  • 97
    • 1542346659 scopus 로고    scopus 로고
    • Minneapolis: University of Minnesota Press
    • Karlsson G. The History of Iceland. 2000;University of Minnesota Press, Minneapolis.
    • (2000) The History of Iceland
    • Karlsson, G.1
  • 98
    • 0034994768 scopus 로고    scopus 로고
    • Axial length and refractive error in X-linked retinoschisis
    • Kato K., Miyake Y., Kachi S., et al. Axial length and refractive error in X-linked retinoschisis. Am J Ophthalmol. 131:2001;812-814.
    • (2001) Am J Ophthalmol , vol.131 , pp. 812-814
    • Kato, K.1    Miyake, Y.2    Kachi, S.3
  • 99
    • 0030032861 scopus 로고
    • Developmentally regulated expression of a cell surface protein, neuropilin, in the mouse nervous system
    • Kawakami A., Kitsukawa T., Takagi S., et al. Developmentally regulated expression of a cell surface protein, neuropilin, in the mouse nervous system. J Neurobiol. 29:1995;1-17.
    • (1995) J Neurobiol , vol.29 , pp. 1-17
    • Kawakami, A.1    Kitsukawa, T.2    Takagi, S.3
  • 101
    • 0025331611 scopus 로고
    • [X-chromosomal congenital retinoschisis. Clinical aspects and electrophysiology]
    • Kellner U., Brummer S., Foerster M.H., et al. [X-chromosomal congenital retinoschisis. Clinical aspects and electrophysiology]. Fortschr Ophthalmol. 87:1990;264-268.
    • (1990) Fortschr Ophthalmol , vol.87 , pp. 264-268
    • Kellner, U.1    Brummer, S.2    Foerster, M.H.3
  • 104
    • 0035673041 scopus 로고    scopus 로고
    • Analysis of photoreceptor function and inner retinal activity in juvenile X-linked retinoschisis
    • Khan N.W., Jamison J.A., Kemp J.A., et al. Analysis of photoreceptor function and inner retinal activity in juvenile X-linked retinoschisis. Vision Res. 41:2001;3931-3942.
    • (2001) Vision Res , vol.41 , pp. 3931-3942
    • Khan, N.W.1    Jamison, J.A.2    Kemp, J.A.3
  • 105
    • 0029825685 scopus 로고    scopus 로고
    • A histopathological, ultrastructural and immunohistochemical study of congenital hereditary retinoschisis
    • Kirsch L.S., Brownstein S., de Wolff-Rouendaal D. A histopathological, ultrastructural and immunohistochemical study of congenital hereditary retinoschisis. Can J Ophthalmol. 31:1996;301-310.
    • (1996) Can J Ophthalmol , vol.31 , pp. 301-310
    • Kirsch, L.S.1    Brownstein, S.2    De Wolff-Rouendaal, D.3
  • 106
    • 85069072241 scopus 로고    scopus 로고
    • Phenotype-genotype correlation in patients with the Goldmann-Favre syndrome
    • [ARVO abstract]
    • Klaver C.C., Pachydaki S., Yannuzzi L.A., et al. Phenotype-genotype correlation in patients with the Goldmann-Favre syndrome. [ARVO abstract] Invest Ophthalmol Vis Sci. 44:2003;4938.
    • (2003) Invest Ophthalmol Vis Sci , vol.44 , pp. 4938
    • Klaver, C.C.1    Pachydaki, S.2    Yannuzzi, L.A.3
  • 107
    • 0025924027 scopus 로고
    • Muller cells are a preferred substrate for in vitro neurite extension by rod photoreceptor cells
    • Kljavin I.J., Reh T.A. Muller cells are a preferred substrate for in vitro neurite extension by rod photoreceptor cells. J Neurosci. 11:1991;2985-2994.
    • (1991) J Neurosci , vol.11 , pp. 2985-2994
    • Kljavin, I.J.1    Reh, T.A.2
  • 108
    • 0014899794 scopus 로고
    • Fluorescein angiographic studies on x-chromosomal retinoschisis
    • Krause U., Vainio-Mattila B., Eriksson A., et al. Fluorescein angiographic studies on x-chromosomal retinoschisis. Acta Ophthalmol (Copenh). 48:1970;794-807.
    • (1970) Acta Ophthalmol (Copenh) , vol.48 , pp. 794-807
    • Krause, U.1    Vainio-Mattila, B.2    Eriksson, A.3
  • 110
    • 0023255602 scopus 로고
    • Hereditary X-linked retinoschisis and bilateral congenital retinal detachment
    • Laatikainen L., Tarkkanen A., Saksela T. Hereditary X-linked retinoschisis and bilateral congenital retinal detachment. Retina. 7:1987;24-27.
    • (1987) Retina , vol.7 , pp. 24-27
    • Laatikainen, L.1    Tarkkanen, A.2    Saksela, T.3
  • 113
    • 0023833183 scopus 로고
    • Retinoschisis associated with optic nerve pits
    • Lincoff H., Lopez R., Kreissig I., et al. Retinoschisis associated with optic nerve pits. Arch Ophthalmol. 106:1988;61-67.
    • (1988) Arch Ophthalmol , vol.106 , pp. 61-67
    • Lincoff, H.1    Lopez, R.2    Kreissig, I.3
  • 114
    • 85069062509 scopus 로고    scopus 로고
    • Retinal histology
    • D.R. Guyer, L.A. Yannuzzi, & S. et al. Chang. Philadelphia: WB Saunders
    • Loewenstein A., Green R.W. Retinal histology. Guyer D.R., Yannuzzi L.A., Chang S., et al. Retina-Vitreous-Macula. 1999;1-20 WB Saunders, Philadelphia.
    • (1999) Retina-Vitreous-Macula , pp. 1-20
    • Loewenstein, A.1    Green, R.W.2
  • 115
    • 0014790898 scopus 로고
    • Hereditary retinoschisis and early hemeralopia. A report of two cases
    • MacVicar J.E., Wilbrandt H.R. Hereditary retinoschisis and early hemeralopia. A report of two cases. Arch Ophthalmol. 83:1970;629-636.
    • (1970) Arch Ophthalmol , vol.83 , pp. 629-636
    • MacVicar, J.E.1    Wilbrandt, H.R.2
  • 116
    • 0029099984 scopus 로고
    • A new classification of the retinoschises
    • Madjarov B., Hilton G.F., Brinton D.A., et al. A new classification of the retinoschises. Retina. 15:1995;282-285.
    • (1995) Retina , vol.15 , pp. 282-285
    • Madjarov, B.1    Hilton, G.F.2    Brinton, D.A.3
  • 117
    • 0015385972 scopus 로고
    • Pathology of hereditary juvenile retinoschisis
    • Manschot W.A. Pathology of hereditary juvenile retinoschisis. Arch Ophthalmol. 88:1972;131-138.
    • (1972) Arch Ophthalmol , vol.88 , pp. 131-138
    • Manschot, W.A.1
  • 118
    • 0025333641 scopus 로고
    • Diagnostic clinical findings of a new syndrome with night blindness, maculopathy, and enhanced S cone sensitivity
    • Marmor M.F., Jacobson S.G., Foerster M.H., et al. Diagnostic clinical findings of a new syndrome with night blindness, maculopathy, and enhanced S cone sensitivity. Am J Ophthalmol. 110:1990;124-134.
    • (1990) Am J Ophthalmol , vol.110 , pp. 124-134
    • Marmor, M.F.1    Jacobson, S.G.2    Foerster, M.H.3
  • 119
    • 0026935145 scopus 로고
    • Norrie disease is caused by mutations in an extracellular protein resembling C-terminal globular domain of mucins
    • Meindl A., Berger W., Meitinger T., et al. Norrie disease is caused by mutations in an extracellular protein resembling C-terminal globular domain of mucins. Hum Mol Genet. 2:1992;139-143.
    • (1992) Hum Mol Genet , vol.2 , pp. 139-143
    • Meindl, A.1    Berger, W.2    Meitinger, T.3
  • 120
    • 0034086166 scopus 로고    scopus 로고
    • Unilateral macular retinoschisis with stellate foveal appearance in two females with myopia
    • Menchini U., Brancato R., Virgili G., et al. Unilateral macular retinoschisis with stellate foveal appearance in two females with myopia. Ophthalmic Surg Lasers. 31:2000;229-232.
    • (2000) Ophthalmic Surg Lasers , vol.31 , pp. 229-232
    • Menchini, U.1    Brancato, R.2    Virgili, G.3
  • 121
    • 0032778927 scopus 로고    scopus 로고
    • A Colombian family with X-linked juvenile retinoschisis with three affected females finding of a frameshift mutation
    • Mendoza-Londono R., Hiriyanna K.T., Bingham E.L., et al. A Colombian family with X-linked juvenile retinoschisis with three affected females finding of a frameshift mutation. Ophthalmic Genet. 20:1999;37-43.
    • (1999) Ophthalmic Genet , vol.20 , pp. 37-43
    • Mendoza-Londono, R.1    Hiriyanna, K.T.2    Bingham, E.L.3
  • 122
    • 18244385003 scopus 로고    scopus 로고
    • The nuclear receptor NR2E3 plays a role in human retinal photoreceptor differentiation and degeneration
    • Milam A.H., Rose L., Cideciyan A.V., et al. The nuclear receptor NR2E3 plays a role in human retinal photoreceptor differentiation and degeneration. Proc Natl Acad Sci USA. 99:2002;473-478.
    • (2002) Proc Natl Acad Sci USA , vol.99 , pp. 473-478
    • Milam, A.H.1    Rose, L.2    Cideciyan, A.V.3
  • 123
    • 0035504763 scopus 로고    scopus 로고
    • Understanding human disease mutations through the use of interspecific genetic variation
    • Miller M.P., Kumar S. Understanding human disease mutations through the use of interspecific genetic variation. Hum Mol Genet. 10:2001;2319-2328.
    • (2001) Hum Mol Genet , vol.10 , pp. 2319-2328
    • Miller, M.P.1    Kumar, S.2
  • 124
    • 0032035345 scopus 로고    scopus 로고
    • Funduscopic lesions associated with mortality in shaken baby syndrome
    • Mills M. Funduscopic lesions associated with mortality in shaken baby syndrome. J Aapos. 2:1998;67-71.
    • (1998) J Aapos , vol.2 , pp. 67-71
    • Mills, M.1
  • 125
    • 0033499278 scopus 로고    scopus 로고
    • Golden tapetal-like fundus reflex and posterior hyaloid in a patient with x-linked juvenile retinoschisis
    • Miyake Y., Terasaki H. Golden tapetal-like fundus reflex and posterior hyaloid in a patient with x-linked juvenile retinoschisis. Retina. 19:1999;84-86.
    • (1999) Retina , vol.19 , pp. 84-86
    • Miyake, Y.1    Terasaki, H.2
  • 126
    • 0035089648 scopus 로고    scopus 로고
    • Expression of X-linked retinoschisis protein RS1 in photoreceptor and bipolar cells
    • Molday L.L., Hicks D., Sauer C.G., et al. Expression of X-linked retinoschisis protein RS1 in photoreceptor and bipolar cells. Invest Ophthalmol Vis Sci. 42:2001;816-825.
    • (2001) Invest Ophthalmol Vis Sci , vol.42 , pp. 816-825
    • Molday, L.L.1    Hicks, D.2    Sauer, C.G.3
  • 127
    • 85069076932 scopus 로고    scopus 로고
    • Structural analysis of retinoschisin and its role in X-linked juvenile retinoschisis
    • [ARVO abstract]
    • Molday R.S., Wu W.W. Structural analysis of retinoschisin and its role in X-linked juvenile retinoschisis. [ARVO abstract] Invest Ophthalmol Vis Sci. 44:2003;4572.
    • (2003) Invest Ophthalmol Vis Sci , vol.44 , pp. 4572
    • Molday, R.S.1    Wu, W.W.2
  • 128
    • 0036314113 scopus 로고    scopus 로고
    • Hereditary X-linked juvenile retinoschisis: A review of the role of Muller cells
    • Mooy C.M., Van Den Born L.I., Baarsma S., et al. Hereditary X-linked juvenile retinoschisis: a review of the role of Muller cells. Arch Ophthalmol. 120:2002;979-984.
    • (2002) Arch Ophthalmol , vol.120 , pp. 979-984
    • Mooy, C.M.1    Van Den Born, L.I.2    Baarsma, S.3
  • 129
    • 0035231068 scopus 로고    scopus 로고
    • [Bullous form of X-linked congenital retinoschisis in infants]
    • Mosin I.M., Moshetova L.K., Mishustin V.V., et al. [Bullous form of X-linked congenital retinoschisis in infants]. Vestn Oftalmol. 117:2001;40-43.
    • (2001) Vestn Oftalmol , vol.117 , pp. 40-43
    • Mosin, I.M.1    Moshetova, L.K.2    Mishustin, V.V.3
  • 130
    • 0035697157 scopus 로고    scopus 로고
    • Optical coherence tomography and multifocal electroretinography of X-linked juvenile retinoschisis
    • Muscat S., Fahad B., Parks S., et al. Optical coherence tomography and multifocal electroretinography of X-linked juvenile retinoschisis. Eye. 15:2001;796-799.
    • (2001) Eye , vol.15 , pp. 796-799
    • Muscat, S.1    Fahad, B.2    Parks, S.3
  • 131
    • 0034788402 scopus 로고    scopus 로고
    • Japanese X-linked juvenile retinoschisis: Conflict of phenotype and genotype with novel mutations in the XLRS1 gene
    • Nakamura M., Ito S., Terasaki H., et al. Japanese X-linked juvenile retinoschisis: conflict of phenotype and genotype with novel mutations in the XLRS1 gene. Arch Ophthalmol. 119:2001;1553-1554.
    • (2001) Arch Ophthalmol , vol.119 , pp. 1553-1554
    • Nakamura, M.1    Ito, S.2    Terasaki, H.3
  • 132
    • 0017880514 scopus 로고
    • Familial foveal retinoschisis associated with a rod-cone dystrophy
    • Noble K.G., Carr R.E., Siegel I.M. Familial foveal retinoschisis associated with a rod-cone dystrophy. Am J Ophthalmol. 85:1978;551-557.
    • (1978) Am J Ophthalmol , vol.85 , pp. 551-557
    • Noble, K.G.1    Carr, R.E.2    Siegel, I.M.3
  • 133
    • 0017369533 scopus 로고
    • Dominant cystoid macular dystrophy
    • Notting J.G., Pinckers J.L. Dominant cystoid macular dystrophy. Am J Ophthalmol. 83:1977;234-241.
    • (1977) Am J Ophthalmol , vol.83 , pp. 234-241
    • Notting, J.G.1    Pinckers, J.L.2
  • 134
    • 0019414541 scopus 로고
    • Congenital retinoschisis
    • Odland M. Congenital retinoschisis. Acta Ophthalmol (Copenh). 59:1981;649-658.
    • (1981) Acta Ophthalmol (Copenh) , vol.59 , pp. 649-658
    • Odland, M.1
  • 135
    • 0141671009 scopus 로고
    • Ueber eine unter dem Bilde der Natzhauterblosung verlaufende, erbiche Erkankung der Retina
    • Pagenstecher H. Ueber eine unter dem Bilde der Natzhauterblosung verlaufende, erbiche Erkankung der Retina. Graefes Arch Clin Exp Ophthalmol. 86:1913;457-462.
    • (1913) Graefes Arch Clin Exp Ophthalmol , vol.86 , pp. 457-462
    • Pagenstecher, H.1
  • 136
    • 0023120528 scopus 로고
    • Psychophysical and electroretinographic findings in X-linked juvenile retinoschisis
    • Peachey N.S., Fishman G.A., Derlacki D.J., et al. Psychophysical and electroretinographic findings in X-linked juvenile retinoschisis. Arch Ophthalmol. 105:1987;513-516.
    • (1987) Arch Ophthalmol , vol.105 , pp. 513-516
    • Peachey, N.S.1    Fishman, G.A.2    Derlacki, D.J.3
  • 137
    • 0024590118 scopus 로고
    • Sex linked juvenile retinoschisis with optic disc and peripheral retinal neovascularisation
    • Pearson R., Jagger J. Sex linked juvenile retinoschisis with optic disc and peripheral retinal neovascularisation. Br J Ophthalmol. 73:1989;311-313.
    • (1989) Br J Ophthalmol , vol.73 , pp. 311-313
    • Pearson, R.1    Jagger, J.2
  • 138
    • 0032869123 scopus 로고    scopus 로고
    • Molecular genetics of the Finnish disease heritage
    • Peltonen L., Jalanko A., Varilo T. Molecular genetics of the Finnish disease heritage. Hum Mol Genet. 8:1999;1913-1923.
    • (1999) Hum Mol Genet , vol.8 , pp. 1913-1923
    • Peltonen, L.1    Jalanko, A.2    Varilo, T.3
  • 139
    • 0026641352 scopus 로고
    • X-linked recessive familial exudative vitreoretinopathy
    • Plager D.A., Orgel I.K., Ellis F.D., et al. X-linked recessive familial exudative vitreoretinopathy. Am J Ophthalmol. 114:1992;145-148.
    • (1992) Am J Ophthalmol , vol.114 , pp. 145-148
    • Plager, D.A.1    Orgel, I.K.2    Ellis, F.D.3
  • 140
    • 0036901302 scopus 로고    scopus 로고
    • Peripheral retinoschisis and exudative retinal detachment in pars planitis
    • Pollack A.L., McDonald H.R., Johnson R.N., et al. Peripheral retinoschisis and exudative retinal detachment in pars planitis. Retina. 22:2002;719-724.
    • (2002) Retina , vol.22 , pp. 719-724
    • Pollack, A.L.1    McDonald, H.R.2    Johnson, R.N.3
  • 141
    • 0030682534 scopus 로고    scopus 로고
    • Persistent hyperplastic primary vitreous: Diagnosis, treatment and results
    • Pollard Z.F. Persistent hyperplastic primary vitreous: diagnosis, treatment and results. Trans Am Ophthalmol Soc. 95:1997;487-549.
    • (1997) Trans Am Ophthalmol Soc , vol.95 , pp. 487-549
    • Pollard, Z.F.1
  • 142
    • 0017841230 scopus 로고
    • Congenital hereditary sex-linked retinoschisis
    • Prosperi L. Congenital hereditary sex-linked retinoschisis. J Pediatr Ophthalmol Strabismus. 15:1978;26-30.
    • (1978) J Pediatr Ophthalmol Strabismus , vol.15 , pp. 26-30
    • Prosperi, L.1
  • 143
    • 0035963921 scopus 로고    scopus 로고
    • Turner's syndrome
    • Ranke M.B., Saenger P. Turner's syndrome. Lancet. 358:2001;309-314.
    • (2001) Lancet , vol.358 , pp. 309-314
    • Ranke, M.B.1    Saenger, P.2
  • 144
    • 0024270522 scopus 로고
    • Autopsy findings in the eyes of fourteen fatally abused children
    • Rao N., Smith R.E., Choi J.H., et al. Autopsy findings in the eyes of fourteen fatally abused children. Forensic Sci Int. 39:1988;293-299.
    • (1988) Forensic Sci Int , vol.39 , pp. 293-299
    • Rao, N.1    Smith, R.E.2    Choi, J.H.3
  • 145
    • 0026474912 scopus 로고
    • Exudative retinal detachment subsequent to retinal vein occlusion
    • Ravalico G., Battaglia Parodi M. Exudative retinal detachment subsequent to retinal vein occlusion. Ophthalmologica. 205:1992;77-82.
    • (1992) Ophthalmologica , vol.205 , pp. 77-82
    • Ravalico, G.1    Battaglia Parodi, M.2
  • 146
    • 0027261047 scopus 로고
    • Surgical management of complications associated with X-linked retinoschisis
    • Regillo C.D., Tasman W.S., Brown G.C. Surgical management of complications associated with X-linked retinoschisis. Arch Ophthalmol. 111:1993;1080-1086.
    • (1993) Arch Ophthalmol , vol.111 , pp. 1080-1086
    • Regillo, C.D.1    Tasman, W.S.2    Brown, G.C.3
  • 148
    • 0027337847 scopus 로고
    • What do retinal muller (glial) cells do for their neuronal 'small siblings'?
    • Reichenbach A., Stolzenburg J.U., Eberhardt W., et al. What do retinal muller (glial) cells do for their neuronal 'small siblings'? J Chem Neuroanat. 6:1993;201-213.
    • (1993) J Chem Neuroanat , vol.6 , pp. 201-213
    • Reichenbach, A.1    Stolzenburg, J.U.2    Eberhardt, W.3
  • 149
    • 0033580310 scopus 로고    scopus 로고
    • The mouse X-linked juvenile retinoschisis cDNA: Expression in photoreceptors
    • Reid S.N., Akhmedov N.B., Piriev N.I., et al. The mouse X-linked juvenile retinoschisis cDNA: expression in photoreceptors. Gene. 227:1999;257-266.
    • (1999) Gene , vol.227 , pp. 257-266
    • Reid, S.N.1    Akhmedov, N.B.2    Piriev, N.I.3
  • 150
    • 4243604768 scopus 로고    scopus 로고
    • Transport of a photoreceptor-secreted protein, retinoschisin, by Muller cells
    • [ARVO abstract]
    • Reid S.N., Farber D.B. Transport of a photoreceptor-secreted protein, retinoschisin, by Muller cells. [ARVO abstract] Invest Ophthalmol Vis Sci. 42:(Suppl):2001;S647.
    • (2001) Invest Ophthalmol Vis Sci , vol.42 , Issue.SUPPL , pp. 647
    • Reid, S.N.1    Farber, D.B.2
  • 151
    • 85069085412 scopus 로고    scopus 로고
    • Secretion and transport of retinoschisin, the protein product of the X-linked juvenile retinoschisis gene
    • [ARVO abstract]
    • Reid S.N., Farber D.B. Secretion and transport of retinoschisin, the protein product of the X-linked juvenile retinoschisis gene. [ARVO abstract] Invest Ophthalmol Vis Sci. 44:2003;1535.
    • (2003) Invest Ophthalmol Vis Sci , vol.44 , pp. 1535
    • Reid, S.N.1    Farber, D.B.2
  • 152
    • 0034014844 scopus 로고    scopus 로고
    • COL2A1 exon 2 mutations: Relevance to the Stickler and Wagner syndromes
    • Richards A.J., Martin S., Yates J.R., et al. COL2A1 exon 2 mutations: relevance to the Stickler and Wagner syndromes. Br J Ophthalmol. 84:2000;364-371.
    • (2000) Br J Ophthalmol , vol.84 , pp. 364-371
    • Richards, A.J.1    Martin, S.2    Yates, J.R.3
  • 153
    • 0032323525 scopus 로고    scopus 로고
    • Dissecting the dark-adapted electroretinogram
    • Robson J.G., Frishman L.J. Dissecting the dark-adapted electroretinogram. Doc Ophthalmol. 95:1999;187-215.
    • (1999) Doc Ophthalmol , vol.95 , pp. 187-215
    • Robson, J.G.1    Frishman, L.J.2
  • 154
    • 0029846779 scopus 로고    scopus 로고
    • Pathophysiology and treatment of cystoid macular edema
    • Rocha G., Deschenes J. Pathophysiology and treatment of cystoid macular edema. Can J Ophthalmol. 31:1996;282-288.
    • (1996) Can J Ophthalmol , vol.31 , pp. 282-288
    • Rocha, G.1    Deschenes, J.2
  • 155
    • 0031812992 scopus 로고    scopus 로고
    • The natural history of X-linked retinoschisis
    • Roesch M.T., Ewing C.C., Gibson A.E., et al. The natural history of X-linked retinoschisis. Can J Ophthalmol. 33:1998;149-158.
    • (1998) Can J Ophthalmol , vol.33 , pp. 149-158
    • Roesch, M.T.1    Ewing, C.C.2    Gibson, A.E.3
  • 158
    • 0031943668 scopus 로고    scopus 로고
    • Outcomes of vitreoretinal surgery in patients with X-linked retinoschisis
    • Rosenfeld P.J., Flynn H.W. Jr., McDonald H.R., et al. Outcomes of vitreoretinal surgery in patients with X-linked retinoschisis. Ophthalmic Surg Lasers. 29:1998;190-197.
    • (1998) Ophthalmic Surg Lasers , vol.29 , pp. 190-197
    • Rosenfeld, P.J.1    Flynn Jr., H.W.2    McDonald, H.R.3
  • 159
    • 0027751399 scopus 로고
    • Visual impairment in Nordic children. V. X-linked juvenile retinoschisis
    • Rudanko S.L., Flage T., Hansen E., et al. Visual impairment in Nordic children. V. X-linked juvenile retinoschisis. Acta Ophthalmol (Copenh). 71:1993;586-589.
    • (1993) Acta Ophthalmol (Copenh) , vol.71 , pp. 586-589
    • Rudanko, S.L.1    Flage, T.2    Hansen, E.3
  • 160
    • 0029950229 scopus 로고    scopus 로고
    • Optical coherence tomography of macular lesions associated with optic nerve head pits
    • Rutledge B.K., Puliafito C.A., Duker J.S., et al. Optical coherence tomography of macular lesions associated with optic nerve head pits. Ophthalmology. 103:1996;1047-1053.
    • (1996) Ophthalmology , vol.103 , pp. 1047-1053
    • Rutledge, B.K.1    Puliafito, C.A.2    Duker, J.S.3
  • 161
    • 0013955685 scopus 로고
    • Juvenile retinoschisis
    • Sabates F.N. Juvenile retinoschisis. Am J Ophthalmol. 62:1966;683-688.
    • (1966) Am J Ophthalmol , vol.62 , pp. 683-688
    • Sabates, F.N.1
  • 162
    • 0030771360 scopus 로고    scopus 로고
    • Positional cloning of the gene associated with X-linked juvenile retinoschisis
    • Sauer C.G., Gehrig A., Warneke-Wittstock R., et al. Positional cloning of the gene associated with X-linked juvenile retinoschisis. Nat Genet. 17:1997;164-170.
    • (1997) Nat Genet , vol.17 , pp. 164-170
    • Sauer, C.G.1    Gehrig, A.2    Warneke-Wittstock, R.3
  • 163
    • 0021807303 scopus 로고
    • Indications for vitrectomy in congenital retinoschisis
    • Schulman J., Peyman G.A., Jednock N., et al. Indications for vitrectomy in congenital retinoschisis. Br J Ophthalmol. 69:1985;482-486.
    • (1985) Br J Ophthalmol , vol.69 , pp. 482-486
    • Schulman, J.1    Peyman, G.A.2    Jednock, N.3
  • 164
    • 0029548352 scopus 로고
    • Retinal involvement in pigment dispersion syndrome
    • Scuderi G., Papale A., Nucci C., et al. Retinal involvement in pigment dispersion syndrome. Int Ophthalmol. 19:1995;375-378.
    • (1995) Int Ophthalmol , vol.19 , pp. 375-378
    • Scuderi, G.1    Papale, A.2    Nucci, C.3
  • 165
    • 0025696709 scopus 로고
    • Local ERG for clinical examination of eye diseases
    • Shamshinova A.M. Local ERG for clinical examination of eye diseases. Doc Ophthalmol. 76:1990;1-11.
    • (1990) Doc Ophthalmol , vol.76 , pp. 1-11
    • Shamshinova, A.M.1
  • 166
    • 0036480152 scopus 로고    scopus 로고
    • Review: Coats disease: The 2001 LuEsther T. Mertz lecture
    • Shields J.A., Shields C.L. Review: Coats disease: the 2001 LuEsther T. Mertz lecture. Retina. 22:2002;80-91.
    • (2002) Retina , vol.22 , pp. 80-91
    • Shields, J.A.1    Shields, C.L.2
  • 167
    • 0023257492 scopus 로고
    • Familial retinoschisis in female patients
    • Shimazaki J., Matsuhashi M. Familial retinoschisis in female patients. Doc Ophthalmol. 65:1987;393-400.
    • (1987) Doc Ophthalmol , vol.65 , pp. 393-400
    • Shimazaki, J.1    Matsuhashi, M.2
  • 168
    • 0035056673 scopus 로고    scopus 로고
    • On- and off-responses of the photopic electroretinograms in X-linked juvenile retinoschisis
    • Shinoda K., Ohde H., Mashima Y., et al. On- and off-responses of the photopic electroretinograms in X-linked juvenile retinoschisis. Am J Ophthalmol. 131:2001;489-494.
    • (2001) Am J Ophthalmol , vol.131 , pp. 489-494
    • Shinoda, K.1    Ohde, H.2    Mashima, Y.3
  • 169
    • 0033389733 scopus 로고    scopus 로고
    • Juvenile retinoschisis: A model for molecular diagnostic testing of X-linked ophthalmic disease
    • discussion 464-9
    • Sieving P.A., Yashar B.M., Ayyagari R. Juvenile retinoschisis: a model for molecular diagnostic testing of X-linked ophthalmic disease. Trans Am Ophthalmol Soc. 97:1999;451-464. discussion 464-9.
    • (1999) Trans Am Ophthalmol Soc , vol.97 , pp. 451-464
    • Sieving, P.A.1    Yashar, B.M.2    Ayyagari, R.3
  • 170
    • 0032777712 scopus 로고    scopus 로고
    • Juvenile X-linked retinoschisis from XLRS1 Arg213Trp mutation with preservation of the electroretinogram scotopic b-wave
    • Sieving P.A., Bingham E.L., Kemp J., et al. Juvenile X-linked retinoschisis from XLRS1 Arg213Trp mutation with preservation of the electroretinogram scotopic b-wave. Am J Ophthalmol. 128:1999;179-184.
    • (1999) Am J Ophthalmol , vol.128 , pp. 179-184
    • Sieving, P.A.1    Bingham, E.L.2    Kemp, J.3
  • 171
    • 0034546336 scopus 로고    scopus 로고
    • Persistent hyperplastic primary vitreous
    • Silbert M., Gurwood A.S. Persistent hyperplastic primary vitreous. Clin Eye Vis Care. 12:2000;131-137.
    • (2000) Clin Eye Vis Care , vol.12 , pp. 131-137
    • Silbert, M.1    Gurwood, A.S.2
  • 172
    • 0032549799 scopus 로고    scopus 로고
    • Neuropilin-1 is expressed by endothelial and tumor cells as an isoform-specific receptor for vascular endothelial growth factor
    • Soker S., Takashima S., Miao H.Q., et al. Neuropilin-1 is expressed by endothelial and tumor cells as an isoform-specific receptor for vascular endothelial growth factor. Cell. 92:1998;735-745.
    • (1998) Cell , vol.92 , pp. 735-745
    • Soker, S.1    Takashima, S.2    Miao, H.Q.3
  • 173
    • 0342462483 scopus 로고
    • Unusual retinal detachment, possibly sex-linked
    • Sorsby A., Klein M., Gann J.H., et al. Unusual retinal detachment, possibly sex-linked. Br J Ophthalmol. 35:1951;1-9.
    • (1951) Br J Ophthalmol , vol.35 , pp. 1-9
    • Sorsby, A.1    Klein, M.2    Gann, J.H.3
  • 175
    • 0035124742 scopus 로고    scopus 로고
    • Optical coherence tomography and electrophysiology in X-linked juvenile retinoschisis associated with a novel mutation in the XLRS1 gene
    • Stanga P.E., Chong N.H., Reck A.C., et al. Optical coherence tomography and electrophysiology in X-linked juvenile retinoschisis associated with a novel mutation in the XLRS1 gene. Retina. 21:2001;78-80.
    • (2001) Retina , vol.21 , pp. 78-80
    • Stanga, P.E.1    Chong, N.H.2    Reck, A.C.3
  • 176
    • 0029093153 scopus 로고
    • Expression of a cell adhesion molecule, neuropilin, in the developing chick nervous system
    • Takagi S., Kasuya Y., Shimizu M., et al. Expression of a cell adhesion molecule, neuropilin, in the developing chick nervous system. Dev Biol. 170:1995;207-222.
    • (1995) Dev Biol , vol.170 , pp. 207-222
    • Takagi, S.1    Kasuya, Y.2    Shimizu, M.3
  • 177
    • 0032860778 scopus 로고    scopus 로고
    • Foveal retinoschisis and retinal detachment in severely myopic eyes with posterior staphyloma
    • Takano M., Kishi S. Foveal retinoschisis and retinal detachment in severely myopic eyes with posterior staphyloma. Am J Ophthalmol. 128:1999;472-476.
    • (1999) Am J Ophthalmol , vol.128 , pp. 472-476
    • Takano, M.1    Kishi, S.2
  • 178
    • 0032733269 scopus 로고    scopus 로고
    • [A case of juvenile retinoschisis diagnosed by analysis of the XLRS 1 gene]
    • Taketani R., Yokoyama T., Hotta Y., et al. [A case of juvenile retinoschisis diagnosed by analysis of the XLRS 1 gene]. Nippon Ganka Gakkai Zasshi. 103:1999;817-820.
    • (1999) Nippon Ganka Gakkai Zasshi , vol.103 , pp. 817-820
    • Taketani, R.1    Yokoyama, T.2    Hotta, Y.3
  • 179
    • 0022258643 scopus 로고
    • Electrophysiological similarities between two eyes with X-linked recessive retinoschisis
    • Tanino T., Katsumi O., Hirose T. Electrophysiological similarities between two eyes with X-linked recessive retinoschisis. Doc Ophthalmol. 60:1985;149-161.
    • (1985) Doc Ophthalmol , vol.60 , pp. 149-161
    • Tanino, T.1    Katsumi, O.2    Hirose, T.3
  • 180
    • 0041326345 scopus 로고    scopus 로고
    • X-linked retinoschisis: Report of an Icelandic family with a rare deletion in the XLRS1 gene
    • Tantri A., Vrabec T.R., Cu-Unjieng A., et al. X-linked retinoschisis: report of an Icelandic family with a rare deletion in the XLRS1 gene. Am J Ophthalmol. 136:2003;547-549.
    • (2003) Am J Ophthalmol , vol.136 , pp. 547-549
    • Tantri, A.1    Vrabec, T.R.2    Cu-Unjieng, A.3
  • 181
    • 17444453839 scopus 로고
    • [State of peripheral sections of the fundus oculi in progressive high myopia]
    • Tarutta E.P., Saksonova E.O. [State of peripheral sections of the fundus oculi in progressive high myopia]. Vestn Oftalmol. 107:1991;54-58.
    • (1991) Vestn Oftalmol , vol.107 , pp. 54-58
    • Tarutta, E.P.1    Saksonova, E.O.2
  • 183
    • 1542376429 scopus 로고    scopus 로고
    • X-linked retinoschisis
    • D.R. Guyer, L.A. Yannuzzi, & S. et al. Chang. Philadlelphia: WB Saunders
    • Tasman W. X-linked retinoschisis. Guyer D.R., Yannuzzi L.A., Chang S., et al. Retina-Vitreous-Macula. 1999;1013-1017 WB Saunders, Philadlelphia.
    • (1999) Retina-Vitreous-Macula , pp. 1013-1017
    • Tasman, W.1
  • 184
    • 1542346655 scopus 로고
    • [Juvenile retinoschisis in Iceland]
    • Thordarson K., Gislason I. [Juvenile retinoschisis in Iceland]. J Physicisians. 73:1987;11-14.
    • (1987) J Physicisians , vol.73 , pp. 11-14
    • Thordarson, K.1    Gislason, I.2
  • 185
    • 0018852756 scopus 로고
    • Infantile cystoid maculopathy
    • Trese M.T., Foos R.Y. Infantile cystoid maculopathy. Br J Ophthalmol. 64:1980;206-210.
    • (1980) Br J Ophthalmol , vol.64 , pp. 206-210
    • Trese, M.T.1    Foos, R.Y.2
  • 186
    • 0028834861 scopus 로고
    • The role of inner wall retinectomy in the management of juvenile retinoschisis
    • Trese M.T., Ferrone P.J. The role of inner wall retinectomy in the management of juvenile retinoschisis. Graefes Arch Clin Exp Ophthalmol. 233:1995;706-708.
    • (1995) Graefes Arch Clin Exp Ophthalmol , vol.233 , pp. 706-708
    • Trese, M.T.1    Ferrone, P.J.2
  • 187
    • 0024411792 scopus 로고
    • Analysis of results in the treatment of peripheral retinoschisis in sex-linked congenital retinoschisis
    • Turut P., Francois P., Castier P., et al. Analysis of results in the treatment of peripheral retinoschisis in sex-linked congenital retinoschisis. Graefes Arch Clin Exp Ophthalmol. 227:1989;328-331.
    • (1989) Graefes Arch Clin Exp Ophthalmol , vol.227 , pp. 328-331
    • Turut, P.1    Francois, P.2    Castier, P.3
  • 188
    • 0014635195 scopus 로고
    • X-chromosomal recessive retinoschisis in the Region of Pori. An ophthalmo-genetical analysis of 103 cases
    • Vainio-Mattila B., Eriksson A.W., Forsius H. X-chromosomal recessive retinoschisis in the Region of Pori. An ophthalmo-genetical analysis of 103 cases. Acta Ophthalmol (Copenh). 47:1969;1135-1148.
    • (1969) Acta Ophthalmol (Copenh) , vol.47 , pp. 1135-1148
    • Vainio-Mattila, B.1    Eriksson, A.W.2    Forsius, H.3
  • 189
    • 85069073803 scopus 로고    scopus 로고
    • Fundus albipunctatus-like lesions in juvenile retinoschisis
    • Vanschooneveld M.J., Miyake Y. Fundus albipunctatus-like lesions in juvenile retinoschisis. Nat Genet. 17:1997;164-170.
    • (1997) Nat Genet , vol.17 , pp. 164-170
    • Vanschooneveld, M.J.1    Miyake, Y.2
  • 190
    • 0031309902 scopus 로고    scopus 로고
    • The discoidin domain receptor tyrosine kinases are activated by collagen
    • Vogel W., Gish G., Alves F., et al. The discoidin domain receptor tyrosine kinases are activated by collagen. Mol Cell. 1:1997;13-23.
    • (1997) Mol Cell , vol.1 , pp. 13-23
    • Vogel, W.1    Gish, G.2    Alves, F.3
  • 191
    • 0032921366 scopus 로고    scopus 로고
    • Discoidin domain receptors: Structural relations and functional implications
    • Vogel W. Discoidin domain receptors: structural relations and functional implications. FASEB J. 13:1999;S77-S82.
    • (1999) FASEB J , vol.13 , pp. 77-S82
    • Vogel, W.1
  • 192
    • 0027322387 scopus 로고
    • Clinical methods for detecting the carrier state of X-chromosome-linked retinal disorders
    • Wald K.J., Hirose T. Clinical methods for detecting the carrier state of X-chromosome-linked retinal disorders. Int Ophthalmol Clin. 33:1993;203-217.
    • (1993) Int Ophthalmol Clin , vol.33 , pp. 203-217
    • Wald, K.J.1    Hirose, T.2
  • 193
    • 0037112744 scopus 로고    scopus 로고
    • Intracellular retention of mutant retinoschisin is the pathological mechanism underlying X-linked retinoschisis
    • Wang T., Walters C.T., Rothman A.M., et al. Intracellular retention of mutant retinoschisin is the pathological mechanism underlying X-linked retinoschisis. Hum Mol Genet. 11:2002;3097-3105.
    • (2002) Hum Mol Genet , vol.11 , pp. 3097-3105
    • Wang, T.1    Walters, C.T.2    Rothman, A.M.3
  • 194
    • 0000988972 scopus 로고
    • Norrie's disease, a congenital progressive oculo-acoustico-cerebral degeneration
    • Warburg M. Norrie's disease, a congenital progressive oculo-acoustico-cerebral degeneration. Acta Ophthalmol Suppl (Copenh). 89:1966;1-149.
    • (1966) Acta Ophthalmol Suppl (Copenh) , vol.89 , pp. 1-149
    • Warburg, M.1
  • 195
    • 0028097367 scopus 로고
    • Mutations in the tissue inhibitor of metalloproteinases-3 (TIMP3) in patients with Sorsby's fundus dystrophy
    • Weber B.H., Vogt G., Pruett R.C., et al. Mutations in the tissue inhibitor of metalloproteinases-3 (TIMP3) in patients with Sorsby's fundus dystrophy. Nat Genet. 8:1994;352-356.
    • (1994) Nat Genet , vol.8 , pp. 352-356
    • Weber, B.H.1    Vogt, G.2    Pruett, R.C.3
  • 196
    • 18344370953 scopus 로고    scopus 로고
    • Inactivation of the murine X-linked juvenile retinoschisis gene, Rs1h, suggests a role of retinoschisin in retinal cell layer organization and synaptic structure
    • Weber B.H., Schrewe H., Molday L.L., et al. Inactivation of the murine X-linked juvenile retinoschisis gene, Rs1h, suggests a role of retinoschisin in retinal cell layer organization and synaptic structure. Proc Natl Acad Sci USA. 99:2002;6222-6227.
    • (2002) Proc Natl Acad Sci USA , vol.99 , pp. 6222-6227
    • Weber, B.H.1    Schrewe, H.2    Molday, L.L.3
  • 197
    • 84907112074 scopus 로고
    • A carrier state of X-linked juvenile retinoschisis
    • Wu G., Cotlier E., Brodie S. A carrier state of X-linked juvenile retinoschisis. Ophthalmic Paediatr Genet. 5:1985;13-17.
    • (1985) Ophthalmic Paediatr Genet , vol.5 , pp. 13-17
    • Wu, G.1    Cotlier, E.2    Brodie, S.3
  • 198
    • 0024376317 scopus 로고
    • Autosomal juvenile retinoschisis without foveal retinoschisis
    • Yamaguchi K., Hara S. Autosomal juvenile retinoschisis without foveal retinoschisis. Br J Ophthalmol. 73:1989;470-473.
    • (1989) Br J Ophthalmol , vol.73 , pp. 470-473
    • Yamaguchi, K.1    Hara, S.2
  • 200
    • 0019969570 scopus 로고
    • Autosomal dominant inheritance of retinoschisis
    • Yassur Y., Nissenkorn I., Ben-Sira I., et al. Autosomal dominant inheritance of retinoschisis. Am J Ophthalmol. 94:1982;338-343.
    • (1982) Am J Ophthalmol , vol.94 , pp. 338-343
    • Yassur, Y.1    Nissenkorn, I.2    Ben-Sira, I.3
  • 201
    • 0034566255 scopus 로고    scopus 로고
    • [New examination methods for macular disorders - Application of diagnosis and treatment]
    • Yoshida A. [New examination methods for macular disorders - application of diagnosis and treatment]. Nippon Ganka Gakkai Zasshi. 104:2000;899-942.
    • (2000) Nippon Ganka Gakkai Zasshi , vol.104 , pp. 899-942
    • Yoshida, A.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.