메뉴 건너뛰기




Volumn 125, Issue 2, 2007, Pages 259-267

Novel phenotypic and genotypic findings in X-linked retinoschisis

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN; RETINOSCHISIN; UNCLASSIFIED DRUG; VISUAL PIGMENT;

EID: 33846975451     PISSN: 00039950     EISSN: 00039950     Source Type: Journal    
DOI: 10.1001/archopht.125.2.259     Document Type: Article
Times cited : (61)

References (38)
  • 2
    • 33847002659 scopus 로고    scopus 로고
    • ed, Oxford, England: Oxford University Press;, Oxford Monographs on Medical Genetics;
    • Traboulsi E, ed. Genetic Disease of the Eye. Oxford, England: Oxford University Press; 1998. Oxford Monographs on Medical Genetics; No. 36.
    • (1998) Genetic Disease of the Eye , Issue.36
  • 4
    • 29744433816 scopus 로고    scopus 로고
    • X-linked retinoschisis: Clinical phenotype and RS1 genotype in 86 UK patients
    • Pimenides D, George ND, Yates JR, et al. X-linked retinoschisis: clinical phenotype and RS1 genotype in 86 UK patients. J Med Genet. 2005;42:e35.
    • (2005) J Med Genet , vol.42
    • Pimenides, D.1    George, N.D.2    Yates, J.R.3
  • 6
    • 15444370833 scopus 로고    scopus 로고
    • RS1, a discoidin domain-containing retinal cell adhesion protein associated with X-linked retinoschisis, exists as a novel disulfide-linked octamer
    • Wu WW, Wong JP, Kast J, Molday RS. RS1, a discoidin domain-containing retinal cell adhesion protein associated with X-linked retinoschisis, exists as a novel disulfide-linked octamer. J Biol Chem. 2005;280:10721-10730.
    • (2005) J Biol Chem , vol.280 , pp. 10721-10730
    • Wu, W.W.1    Wong, J.P.2    Kast, J.3    Molday, R.S.4
  • 7
    • 7544242022 scopus 로고    scopus 로고
    • Four Japanese male patients with juvenile retinoschisis: Only three have mutations in the RS1 gene
    • Hayashi T, Omoto S, Takeuchi T, Kozaki K, Ueoka Y, Kitahara K. Four Japanese male patients with juvenile retinoschisis: only three have mutations in the RS1 gene. Am J Ophthalmol. 2004;138:788-798.
    • (2004) Am J Ophthalmol , vol.138 , pp. 788-798
    • Hayashi, T.1    Omoto, S.2    Takeuchi, T.3    Kozaki, K.4    Ueoka, Y.5    Kitahara, K.6
  • 10
    • 0038345865 scopus 로고    scopus 로고
    • Macular pigment density and distribution: Comparison of fundus autofluorescence with minimum motion photometry
    • Robson AG, Moreland JD, Pauleikhoff D, et al. Macular pigment density and distribution: comparison of fundus autofluorescence with minimum motion photometry. Vision Res. 2003;43:1765-1775.
    • (2003) Vision Res , vol.43 , pp. 1765-1775
    • Robson, A.G.1    Moreland, J.D.2    Pauleikhoff, D.3
  • 11
    • 0029022639 scopus 로고
    • Distribution of fundus autofluorescence with a scanning laser ophthalmoscope
    • von Ruckmann A, Fitzke FW, Bird AC. Distribution of fundus autofluorescence with a scanning laser ophthalmoscope. Br J Ophthalmol. 1995;79:407-412.
    • (1995) Br J Ophthalmol , vol.79 , pp. 407-412
    • von Ruckmann, A.1    Fitzke, F.W.2    Bird, A.C.3
  • 12
    • 4344652909 scopus 로고    scopus 로고
    • International Society for Clinical Electrophysiology of Vision. Standard for clinical electroretinography (2004 update)
    • Marmor MF, Holder G, Seeliger M, Yamamoto S; International Society for Clinical Electrophysiology of Vision. Standard for clinical electroretinography (2004 update). Doc Ophthalmol. 2004;108:107-114.
    • (2004) Doc Ophthalmol , vol.108 , pp. 107-114
    • Marmor, M.F.1    Holder, G.2    Seeliger, M.3    Yamamoto, S.4
  • 13
    • 0034909928 scopus 로고    scopus 로고
    • High-frequency attenuation of the cone ERG and ON-response deficits in X-linked retinoschisis
    • Alexander KR, Barnes CS, Fishman GA. High-frequency attenuation of the cone ERG and ON-response deficits in X-linked retinoschisis. Invest Ophthalmol Vis Sci. 2001;42:2094-2101.
    • (2001) Invest Ophthalmol Vis Sci , vol.42 , pp. 2094-2101
    • Alexander, K.R.1    Barnes, C.S.2    Fishman, G.A.3
  • 14
    • 0027725035 scopus 로고
    • Photopic ON- and OFF-pathway abnormalities in retinal dystrophies
    • Sieving PA. Photopic ON- and OFF-pathway abnormalities in retinal dystrophies. Trans Am Ophthalmol Soc. 1993;91:701-773.
    • (1993) Trans Am Ophthalmol Soc , vol.91 , pp. 701-773
    • Sieving, P.A.1
  • 15
    • 28444455272 scopus 로고    scopus 로고
    • Unilateral electronegative ERG of non-vascular aetiology
    • Robson AG, Richardson EC, Koh AH, et al. Unilateral electronegative ERG of non-vascular aetiology. Br J Ophthalmol. 2005;89:1620-1626.
    • (2005) Br J Ophthalmol , vol.89 , pp. 1620-1626
    • Robson, A.G.1    Richardson, E.C.2    Koh, A.H.3
  • 16
    • 0033652880 scopus 로고    scopus 로고
    • International Society for Clinical Electrophysiology of Vision. Standard for pattern electroretinography
    • Bach M, Hawlina M, Holder GE, et al; International Society for Clinical Electrophysiology of Vision. Standard for pattern electroretinography. Doc Ophthalmol. 2000;101:11-18.
    • (2000) Doc Ophthalmol , vol.101 , pp. 11-18
    • Bach, M.1    Hawlina, M.2    Holder, G.E.3
  • 17
    • 0034981690 scopus 로고    scopus 로고
    • Pattern electroretinography (PERG) and an integrated approach to visual pathway diagnosis
    • Holder GE. Pattern electroretinography (PERG) and an integrated approach to visual pathway diagnosis. Prog Retin Eye Res. 2001;20:531-561.
    • (2001) Prog Retin Eye Res , vol.20 , pp. 531-561
    • Holder, G.E.1
  • 18
    • 7144253129 scopus 로고    scopus 로고
    • Functional implications of the spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis
    • Retinoschisis Consortium
    • Retinoschisis Consortium. Functional implications of the spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis. Hum Mol Genet. 1998;7:1185-1192.
    • (1998) Hum Mol Genet , vol.7 , pp. 1185-1192
  • 20
    • 0028025673 scopus 로고
    • Fundus albipunctatus-like lesions in juvenile retinoschisis
    • van Schooneveld MJ, Miyake Y. Fundus albipunctatus-like lesions in juvenile retinoschisis. Br J Ophthalmol. 1994;78:659-661.
    • (1994) Br J Ophthalmol , vol.78 , pp. 659-661
    • van Schooneveld, M.J.1    Miyake, Y.2
  • 21
    • 0035135735 scopus 로고    scopus 로고
    • Different mutation of the XLRS1 gene causes juvenile retinoschisis with retinal white flecks
    • Hotta Y, Nakamura M, Okamoto Y, Nomura R, Terasaki H, Miyake Y. Different mutation of the XLRS1 gene causes juvenile retinoschisis with retinal white flecks. Br J Ophthalmol. 2001;85:238-239.
    • (2001) Br J Ophthalmol , vol.85 , pp. 238-239
    • Hotta, Y.1    Nakamura, M.2    Okamoto, Y.3    Nomura, R.4    Terasaki, H.5    Miyake, Y.6
  • 22
    • 0041342084 scopus 로고    scopus 로고
    • Pattern ERG correlates of abnormal fundus autofluorescence in patients with retinitis pigmentosa and normal visual acuity
    • Robson AG, El-Amir A, Bailey C, et al. Pattern ERG correlates of abnormal fundus autofluorescence in patients with retinitis pigmentosa and normal visual acuity. Invest Ophthalmol Vis Sci. 2003;44:3544-3550.
    • (2003) Invest Ophthalmol Vis Sci , vol.44 , pp. 3544-3550
    • Robson, A.G.1    El-Amir, A.2    Bailey, C.3
  • 23
    • 6944248891 scopus 로고    scopus 로고
    • Comparison of fundus autofluorescence with photopic and scotopic fine-matrix mapping in patients with retinitis pigmentosa and normal visual acuity
    • Robson AG, Egan CA, Luong VA, Bird AC, Holder GE, Fitzke FW. Comparison of fundus autofluorescence with photopic and scotopic fine-matrix mapping in patients with retinitis pigmentosa and normal visual acuity. Invest Ophthalmol Vis Sci. 2004;45:4119-4125.
    • (2004) Invest Ophthalmol Vis Sci , vol.45 , pp. 4119-4125
    • Robson, A.G.1    Egan, C.A.2    Luong, V.A.3    Bird, A.C.4    Holder, G.E.5    Fitzke, F.W.6
  • 25
    • 33645292904 scopus 로고    scopus 로고
    • Functional characterisation and serial imaging of abnormal fundus autofluorescence in patients with retinitis pigmentosa and normal visual acuity
    • Robson AG, Saihan Z, Jenkins SA, et al. Functional characterisation and serial imaging of abnormal fundus autofluorescence in patients with retinitis pigmentosa and normal visual acuity. Br J Ophthalmol. 2006;90:472-479.
    • (2006) Br J Ophthalmol , vol.90 , pp. 472-479
    • Robson, A.G.1    Saihan, Z.2    Jenkins, S.A.3
  • 26
    • 12944326258 scopus 로고    scopus 로고
    • A detailed study of the phenotype of an autosomal dominant cone-rod dystrophy (CORD7) associated with mutation in the gene for RIM1
    • Michaelides M, Holder GE, Hunt DM, Fitzke FW, Bird AC, Moore AT. A detailed study of the phenotype of an autosomal dominant cone-rod dystrophy (CORD7) associated with mutation in the gene for RIM1. Br J Ophthalmol. 2005;89:198-206.
    • (2005) Br J Ophthalmol , vol.89 , pp. 198-206
    • Michaelides, M.1    Holder, G.E.2    Hunt, D.M.3    Fitzke, F.W.4    Bird, A.C.5    Moore, A.T.6
  • 27
    • 22144494715 scopus 로고    scopus 로고
    • Identification of novel RPGR ORF15 mutations in X-linked progressive cone-rod dystrophy (XLCORD) families
    • Ebenezer ND, Michaelides M, Jenkins SA, et al. Identification of novel RPGR ORF15 mutations in X-linked progressive cone-rod dystrophy (XLCORD) families. Invest Ophthalmol Vis Sci. 2005;46:1891-1898.
    • (2005) Invest Ophthalmol Vis Sci , vol.46 , pp. 1891-1898
    • Ebenezer, N.D.1    Michaelides, M.2    Jenkins, S.A.3
  • 28
    • 33846984905 scopus 로고    scopus 로고
    • Comparison of pattern ERG, multifocal ERG and psychophysical correlates of fundus autofluorescence abnormalities in patients with cone-rod (RPGR, RIM1) or rod-cone dystrophy [ARVO abstract]
    • Robson A, Michaelides M, Webster A, et al. Comparison of pattern ERG, multifocal ERG and psychophysical correlates of fundus autofluorescence abnormalities in patients with cone-rod (RPGR, RIM1) or rod-cone dystrophy [ARVO abstract]. Invest Ophthalmol Vis Sci. 2005;43:552.
    • (2005) Invest Ophthalmol Vis Sci , vol.43 , pp. 552
    • Robson, A.1    Michaelides, M.2    Webster, A.3
  • 29
    • 0023120528 scopus 로고
    • Psychophysical and electroretinographic findings in X-linked juvenile retinoschisis
    • Peachey NS, Fishman GA, Derlacki DJ, Brigell MG. Psychophysical and electroretinographic findings in X-linked juvenile retinoschisis. Arch Ophthalmol. 1987;105:513-516.
    • (1987) Arch Ophthalmol , vol.105 , pp. 513-516
    • Peachey, N.S.1    Fishman, G.A.2    Derlacki, D.J.3    Brigell, M.G.4
  • 30
    • 0033358517 scopus 로고    scopus 로고
    • Mutations of the XLRS1 gene cause abnormalities of photoreceptor as well as inner retinal responses of the ERG
    • Bradshaw K, George N, Moore A, Trump D. Mutations of the XLRS1 gene cause abnormalities of photoreceptor as well as inner retinal responses of the ERG. Doc Ophthalmol. 1999;98:153-173.
    • (1999) Doc Ophthalmol , vol.98 , pp. 153-173
    • Bradshaw, K.1    George, N.2    Moore, A.3    Trump, D.4
  • 31
    • 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 PE, Chong NH, Reck AC, Hardcastle AJ, Holder GE. Optical coherence tomography and electrophysiology in X-linked juvenile retinoschisis associated with a novel mutation in the XLRS1 gene. Retina. 2001;21:78-80.
    • (2001) Retina , vol.21 , pp. 78-80
    • Stanga, P.E.1    Chong, N.H.2    Reck, A.C.3    Hardcastle, A.J.4    Holder, G.E.5
  • 32
    • 0032777712 scopus 로고    scopus 로고
    • Juvenile X-linked retinoschisis from XLRS1 Arg213Trp mutation with preservation of the electroretinogram scotopic b-wave
    • Sieving PA, Bingham EL, Kemp J, Richards J, Hiriyanna K. Juvenile X-linked retinoschisis from XLRS1 Arg213Trp mutation with preservation of the electroretinogram scotopic b-wave. Am J Ophthalmol. 1999;128:179-184.
    • (1999) Am J Ophthalmol , vol.128 , pp. 179-184
    • Sieving, P.A.1    Bingham, E.L.2    Kemp, J.3    Richards, J.4    Hiriyanna, K.5
  • 33
    • 0030318978 scopus 로고    scopus 로고
    • Electroretinographic findings in macular dystrophy
    • Clarke MP, Mitchell KW, McDonnell S. Electroretinographic findings in macular dystrophy. Doc Ophthalmol. 1996;92:325-339.
    • (1996) Doc Ophthalmol , vol.92 , pp. 325-339
    • Clarke, M.P.1    Mitchell, K.W.2    McDonnell, S.3
  • 34
    • 0036314113 scopus 로고    scopus 로고
    • Hereditary X-linked juvenile retinoschisis: A review of the role of Muller cells
    • Mooy CM, Van Den Born LI, Baarsma S, et al. Hereditary X-linked juvenile retinoschisis: a review of the role of Muller cells. Arch Ophthalmol. 2002;120:979-984.
    • (2002) Arch Ophthalmol , vol.120 , pp. 979-984
    • Mooy, C.M.1    Van Den Born, L.I.2    Baarsma, S.3
  • 35
    • 4344674756 scopus 로고    scopus 로고
    • RS-1 gene delivery to an adult Rs1h knock-out mouse model restores ERG b-wave with reversal of the electronegative waveform of X-linked retinoschisis
    • Zeng Y, Takada Y, Kjellstrom S, et al. RS-1 gene delivery to an adult Rs1h knock-out mouse model restores ERG b-wave with reversal of the electronegative waveform of X-linked retinoschisis. Invest Ophthalmol Vis Sci. 2004;45:3279-3285.
    • (2004) Invest Ophthalmol Vis Sci , vol.45 , pp. 3279-3285
    • Zeng, Y.1    Takada, Y.2    Kjellstrom, S.3
  • 36
    • 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 BH, Schrewe H, Molday LL, 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 U S A. 2002;99:6222-6227.
    • (2002) Proc Natl Acad Sci U S A , vol.99 , pp. 6222-6227
    • Weber, B.H.1    Schrewe, H.2    Molday, L.L.3
  • 37
    • 4344685532 scopus 로고    scopus 로고
    • A retinal neuronal developmental wave of retinoschisin expression begins in ganglion cells during layer formation
    • Takada Y, Fariss RN, Tanikawa A, et al. A retinal neuronal developmental wave of retinoschisin expression begins in ganglion cells during layer formation. Invest Ophthalmol Vis Sci. 2004;45:3302-3312.
    • (2004) Invest Ophthalmol Vis Sci , vol.45 , pp. 3302-3312
    • Takada, Y.1    Fariss, R.N.2    Tanikawa, A.3
  • 38
    • 0035673041 scopus 로고    scopus 로고
    • Analysis of photoreceptor function and inner retinal activity in juvenile X-linked retinoschisis
    • Khan NW, Jamison JA, Kemp JA, Sieving PA. Analysis of photoreceptor function and inner retinal activity in juvenile X-linked retinoschisis. Vision Res. 2001;41:3931-3942.
    • (2001) Vision Res , vol.41 , pp. 3931-3942
    • Khan, N.W.1    Jamison, J.A.2    Kemp, J.A.3    Sieving, P.A.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.