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Volumn 26, Issue 3, 2005, Pages 111-117

Juvenile X-linked retinoschisis with normal scotopic b-wave in the electroretinogram at an early stage of the disease

Author keywords

Full field ERG; Juvenile X linked retinoschisis; RS1 gene; Scotopic b wave; XLRS

Indexed keywords

AMINO ACID SUBSTITUTION; ARTICLE; B WAVE; CASE REPORT; CHILD; EARLY DIAGNOSIS; ELECTRORETINOGRAM; EYE PHOTOGRAPHY; GENE MUTATION; HUMAN; MALE; MOLECULAR GENETICS; NIGHT VISION; PRIORITY JOURNAL; RETINOSCHISIS; SEQUENCE ANALYSIS; VISUAL ACUITY; WHITE LIGHT; X CHROMOSOME LINKED DISORDER;

EID: 32044459536     PISSN: 13816810     EISSN: 17445094     Source Type: Journal    
DOI: 10.1080/13816810500228688     Document Type: Article
Times cited : (22)

References (29)
  • 2
    • 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
  • 4
    • 0030771360 scopus 로고    scopus 로고
    • Positional cloning of the gene associated with X-linked juvenile retinoschisis
    • Sauer GS, Gehrig A, Warneke-Wittstock R, et al. Positional cloning of the gene associated with X-linked juvenile retinoschisis. Nat Genet. 1997;17:164-170.
    • (1997) Nat Genet , vol.17 , pp. 164-170
    • Sauer, G.S.1    Gehrig, A.2    Warneke-Wittstock, R.3
  • 5
    • 0033880515 scopus 로고    scopus 로고
    • Phenotypic expression of juvenile X-linked retinoschisis in Swedish families with different mutations in the RS1 gene
    • Eksandh L, Ponjavic V, Ayyagari R, et al. Phenotypic expression of juvenile X-linked retinoschisis in Swedish families with different mutations in the RS1 gene. Arch Ophthalmol. 2000;118:1098-1104.
    • (2000) Arch Ophthalmol , vol.118 , pp. 1098-1104
    • Eksandh, L.1    Ponjavic, V.2    Ayyagari, R.3
  • 7
    • 0024284028 scopus 로고
    • A simple salting out procedure for extracting DNA from human nucleated cells
    • Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 1988;16:1215.
    • (1988) Nucleic Acids Res , vol.16 , pp. 1215
    • Miller, S.A.1    Dykes, D.D.2    Polesky, H.F.3
  • 8
    • 84907115076 scopus 로고
    • A six generation family with autosomal dominant retinitis pigmentosa and a rhodopsin gene mutation (arginine-135-leucine)
    • Andréasson S, Ehinger B, Abrahamson M, Fex G. A six generation family with autosomal dominant retinitis pigmentosa and a rhodopsin gene mutation (arginine-135-leucine). Ophthalmic Paediatr Genet. 1992;13:145-153.
    • (1992) Ophthalmic Paediatr Genet , vol.13 , pp. 145-153
    • Andréasson, S.1    Ehinger, B.2    Abrahamson, M.3    Fex, G.4
  • 9
    • 7144253129 scopus 로고    scopus 로고
    • Functional implications of the spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis (XLRS)
    • The Retinoschisis Consortium. Functional implications of the spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis (XLRS). Hum Mol Genet. 1998;7:1185-1192.
    • (1998) Hum Mol Genet , vol.7 , pp. 1185-1192
  • 10
    • 0029980311 scopus 로고    scopus 로고
    • Clinical features in affected males with X-linked retinoschisis
    • George NDL, Yates JRW, Moore AT. Clinical features in affected males with X-linked retinoschisis. Arch Ophthalmol. 1996;114:274-280.
    • (1996) Arch Ophthalmol , vol.114 , pp. 274-280
    • George, N.D.L.1    Yates, J.R.W.2    Moore, A.T.3
  • 11
    • 0015385972 scopus 로고
    • Pathology of hereditaiy juvenile retinoschisis
    • Manchot WA. Pathology of hereditaiy juvenile retinoschisis. Arch Ophthalmol. 1972;88:131-138.
    • (1972) Arch Ophthalmol , vol.88 , pp. 131-138
    • Manchot, W.A.1
  • 12
    • 0032777712 scopus 로고    scopus 로고
    • Juvenile X-linked retinoschisis from RS1 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 RS1 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
  • 13
    • 0034788402 scopus 로고    scopus 로고
    • Japanese X-linked juvenile retinoschisis: Conflict of phenotype and genotype with novel mutations in the RS1 gene
    • Nakamura M, Ito S, Terasaki H, et al. Japanese X-linked juvenile retinoschisis: conflict of phenotype and genotype with novel mutations in the RS1 gene. Arch Ophthalmol. 2001;119:1553-1554.
    • (2001) Arch Ophthalmol , vol.119 , pp. 1553-1554
    • Nakamura, M.1    Ito, S.2    Terasaki, H.3
  • 14
    • 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
  • 15
    • 0035697157 scopus 로고    scopus 로고
    • Optical coherence tomography and multifocal electroretinography of X-linked juvenile retinoschisis
    • Muscat S, Fahad B, Parks S, Keating D. Optical coherence tomography and multifocal electroretinography of X-linked juvenile retinoschisis. Eye. 2001;15:796-799.
    • (2001) Eye , vol.15 , pp. 796-799
    • Muscat, S.1    Fahad, B.2    Parks, S.3    Keating, D.4
  • 17
    • 0037405278 scopus 로고    scopus 로고
    • The multifocal electroretinogram in X-linked retinoschisis
    • Huang S, Wu D, Jiang F, et al. The multifocal electroretinogram in X-linked retinoschisis. Doc Ophthalmol. 2003;106:251-255.
    • (2003) Doc Ophthalmol , vol.106 , pp. 251-255
    • Huang, S.1    Wu, D.2    Jiang, F.3
  • 18
    • 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 NHV, 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.V.2    Reck, A.C.3    Hardcastle, A.J.4    Holder, G.E.5
  • 19
    • 1942484439 scopus 로고    scopus 로고
    • Optical coherence tomography in the diagnosis of juvenile X-linked retinoschisis
    • Eriksson U, Larsson E, Holmström G. Optical coherence tomography in the diagnosis of juvenile X-linked retinoschisis. Acta Ophthalmol Scand. 2004;82:218-223.
    • (2004) Acta Ophthalmol Scand , vol.82 , pp. 218-223
    • Eriksson, U.1    Larsson, E.2    Holmström, G.3
  • 21
    • 0017880514 scopus 로고
    • Familial foveal retinoschisis with a rod-cone dystrophy
    • Noble K, Carr RE, Siegel IM. Familial foveal retinoschisis with a rod-cone dystrophy. Am J Ophthalmol. 1978;85:551-557.
    • (1978) Am J Ophthalmol , vol.85 , pp. 551-557
    • Noble, K.1    Carr, R.E.2    Siegel, I.M.3
  • 24
    • 0034086166 scopus 로고    scopus 로고
    • Unilateral macular retinoschisis with stellate foveal appearance in two females with myopia
    • Menchini U, Brancato R, Virgili G, Pierro L. Unilateral macular retinoschisis with stellate foveal appearance in two females with myopia. Ophthalmic Surg Lasers. 2000;31:229-232.
    • (2000) Ophthalmic Surg Lasers , vol.31 , pp. 229-232
    • Menchini, U.1    Brancato, R.2    Virgili, G.3    Pierro, L.4
  • 26
    • 0037811339 scopus 로고    scopus 로고
    • Retinoschisin, a photoreceptorsecreted protein, and its interaction with bipolar and Muller cells
    • Reid SN, Yamashita C, Farber DB. Retinoschisin, a photoreceptorsecreted protein, and its interaction with bipolar and Muller cells. J Neurosci. 2003;23:6030-6040.
    • (2003) J Neurosci , vol.23 , pp. 6030-6040
    • Reid, S.N.1    Yamashita, C.2    Farber, D.B.3
  • 27
    • 4344685532 scopus 로고    scopus 로고
    • A retinal neural 'developmental wave' of retinoschisin expression begins in ganglion cells during layer formation
    • Takada Y, Fariss RN, Tanikawa A, et al. A retinal neural '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
  • 28
    • 13544249979 scopus 로고    scopus 로고
    • Glial transcytosis of a photoreceptor-secreted signalling protein, retinoschisin
    • Reid SN, Farber DB. Glial transcytosis of a photoreceptor-secreted signalling protein, retinoschisin. Glia. 2005;49:397-406.
    • (2005) Glia , vol.49 , pp. 397-406
    • Reid, S.N.1    Farber, D.B.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.