X-linked Juvenile Retinoschisis (XLRS): A Review of Genotype-Phenotype Relationships

References

• Deutman AF. Sex-linked juvenile retinoschisis. In: The Hereditary Dystrophies of the Posterior Pole of the Eye. Deutman AF, ed. Assen, the Netherlands: Van Gorcum, 1971. pp 48–98
   Google Scholar
• Ide CH, Wilson RJ. Juvenile retinoschisis. Br J Ophthalmol 1973;57:560–562
   PubMedGoogle Scholar
• Tantri A, Vrabec TR, Cu-Unjieng A, et al. X-linked retinoschisis: Report of a family with a rare deletion in the XLRS1 gene. Am J Ophthalmol 2003;136:547–549
   PubMedGoogle Scholar
• Functional implications of the spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis: The Retinoschisis Consortium. Hum Mol Genet 1998;7:1185–1192
   Google Scholar
• Sauer CG, Gehrig A, Warneke-Wittstock R, et al. Positional cloning of the gene associated with X-linked juvenile retinoschisis. Nat Genet 1997;17:164–170
   PubMed Web of Science ®Google Scholar
• Available at: http://www.dmd.nl/rs/index.html
   Google Scholar
• Eksandh LC, 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 2000;118:1098–1104
   PubMedGoogle Scholar
• Renner AB, Kellner U, Fiebig B, et al. ERG variability in X-linked congenital retinoschisis patients with mutations in the RS1 gene and the diagnostic importance of fundus autofluorescence and OCT. Doc Ophthalmol 2008;116:97–109
   PubMedGoogle Scholar
• Pimenides D, George ND, Yates JR, et al. X-linked retinoschisis: Clinical phenotype and RS1 genotype in 86 UK patients [letter online]. J Med Genet 2005;42:e35
   Google Scholar
• Riveiro-Alvarez R, Trujillo-Tiebas MJ, Gimenez-Pardo A, et al. Correlation of genetic and clinical findings in Spanish patients with X-linked juvenile retinoschisis. Invest Ophthalmol Vis Sci 2009;50:4342–4350
   PubMedGoogle Scholar
• Shinoda K, Ishida S, Oguchi Y, Mashima Y. Clinical characteristics of 14 Japanese patients with X-linked juvenile retinoschisis associated with XLRS1 mutation. Ophthalmic Genet 2000;21:171–180
   PubMedGoogle Scholar
• Hewitt AW, FitzGerald LM, Scotter LW, et al. Genotypic and phenotypic spectrum of X-linked retinoschisis in Australia. Clin Experiment Ophthalmol 2005;33:233–239
   PubMedGoogle Scholar
• Vincent A, Robson AG, Neveu MM, et al. A phenotype-genotype correlation study of X-linked retinoschisis. Ophthalmology 2013;129:1454--1464
   Google Scholar
• Haas J. Ueber dasa Zusammenvorkommen von Veranderugen der retina und Choroidea. Arch Augenheikd 1898;37:343–348
   Google Scholar
• Falcone PM, Brockhurst RJ. X-chromosome-linked juvenile retinoschisis: Clinical aspects and genetics. Int Ophthalmol Clin 1993;33:193–202
   PubMedGoogle Scholar
• Tantri A, Vrabec TR, Cu-Unjieng A, et al. X-linked retinoschisis: A clinical and molecular genetic review. Surv Ophthalmol 2004;49:214–230
   PubMed Web of Science ®Google Scholar
• Kellner U, Brummer S, Foerster MH, et al. X-linked congenital retinoschisis. Graefes Arch Clin Exp Ophthalmol 1990; 228:432–437
   PubMedGoogle Scholar
• Azzolini C, Pierro L, Codenotti M, Brancato R. OCT images and surgery of juvenile macular retinoschisis. Eur J Ophthalmol 1997;7(2):196–200
   PubMedGoogle Scholar
• George ND, Yates JR, Moore AT. Clinical features in affected males with X-linked retinoschisis. Arch Ophthalmol 1996;114:274–280
   PubMed Web of Science ®Google Scholar
• Kellner U, Brummer S, Foerster MH, et al. X-linked congenital retinoschisis. Graefes Arch Clin Exp Ophthalmol 1990;228:432–437
   PubMedGoogle Scholar
• George ND, Yates JR, Bradshaw K, et al. Infantile presentation of X linked retinoschisis. Br J Ophthalmol 1995;79:653–657
   PubMedGoogle Scholar
• Apushkin MA, Fishman GA, Rajagopalan AS. Fundus findings and longitudinal study of visual acuity loss in patients with X-linked retinoschisis. Retina 2005;25:612–618
   PubMedGoogle Scholar
• Rodríguez FJ, Rodríguez A, Mendoza-Londoño R, Tamayo ML. X-linked retinoschisis in three females from the same family: A phenotype-genotype correlation. Retina 2005;25(1):69–74
   PubMed Web of Science ®Google Scholar
• Prenner JL, Capone A Jr, Ciaccia S, et al. Congenital X-linked retinoschisis classification system. Retina 2006;26(7 Suppl):S61–64
   Google Scholar
• Peachey NS, Fishman GA, Derlacki DJ, et al. Psychophysical and electroretinographic findings in X-linked juvenile retinoschisis. Arch Ophthalmol 1987;105:513–516
   PubMedGoogle Scholar
• Sauer CG, Gehrig A, Warneke-Wittstock R, et al. Positional cloning of the gene associated with X-linked juvenile retinoschisis. Nature Genet 1997;17:164–170
   PubMed Web of Science ®Google Scholar
• Grayson C, Reid SN, Ellis JA, et al. Retinoschisin, the X-linked retinoschisis protein, is a secreted photoreceptor rotein, and is expressed and released by Weri-Rb1 cells. Hum Mol Genet 2000;9:1873–1879
   PubMed Web of Science ®Google Scholar
• Molday LL, Hicks D, Sauer CG, et al. Expression of X-linked retinoschisis protein RS1 in photoreceptor and bipolar cells. Invest Ophthalmol Vis Sci 2001;42:816–825
   PubMed Web of Science ®Google Scholar
• 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
   PubMedGoogle Scholar
• Wang T, Waters CT, Rothman AM, et al. Intracellular retention of mutant retinoschisin is the pathological mechanism underlying X-linked retinoschisis. Hum Mol Genet 2002;11:3097–3105
   PubMedGoogle Scholar
• Wu WW, Molday RS. Defective discoidin domain structure, subunit assembly, and endoplasmic reticulum processing of retinoschisin are primary mechanisms responsible for Xlinked retinoschisis. J Biol Chem 2003;278:28139–28146
   PubMed Web of Science ®Google Scholar
• Available at: http://www.dmd.nl/rs/index.html
   Google Scholar
• Fraternali F, Cavallo L, Musco G. Effects of pathological mutations on the stability of a conserved amino acid triad in retinoschisin. FEBS Lett 2003;544:21–26
   PubMed Web of Science ®Google Scholar
• Wu WW, Molday RS. Defective discoidin domain structure, subunit assembly, and endoplasmic reticulum processing of retinoschisin are primary mechanisms responsible for X-linked retinoschisis. J Biol Chem 2003;278:28139–28146
   PubMed Web of Science ®Google Scholar
• Wang T, Waters CT, Rothman AM, et al. Intracellular retention of mutant retinoschisin is the pathological mechanism underlying X-linked retinoschisis. Hum Mol Genet 2002;11:3097–3105
   PubMedGoogle Scholar
• Kim DY, Neely KA, Sassani JW, et al. X-linked retinoschisis: Novel mutation in the initiation codon of the XLRS1 gene in a large family. Retina 2006;26(8):940–946
   PubMedGoogle Scholar
• Rodriguez IR, Mazuruk K, Jaworski C, et al. Novel mutations in the XLRS1 gene may be caused by early Okazaki fragment sequence replacement. Invest Ophthalmol Vis Sci 1998;39:1736–1739
   PubMedGoogle Scholar
• Shinoda K, Mashima Y, Ishida S, Oguchi Y. Severe juvenile retinoschisis associated with a 33-bps deletion in XLRS1 gene. Ophthalmic Genet 1999;20:57–61
   PubMedGoogle Scholar
• Inoue Y, Yamamoto S, Inoue T, et al. Two novel point mutations of the XLRS1 gene in patients with X-linked juvenile retinoschisis. Am J Ophthalmol 2002;134:622–624
   PubMedGoogle Scholar
• Sieving PA, Yashar BM, Ayyagari R. Juvenile retinoschisis: A model for molecular diagnostic testing of X-linked ophthalmic disease. Trans Am Ophthalmol Soc 1999;97:451–464
   PubMedGoogle Scholar
• Shinoda K, Ishida S, Oguchi Y, Mashima Y. Clinical characteristics of 14 Japanese patients with X-linked juvenile retinoschisis associated with XLRS1 mutation. Ophthalmic Genet 2000;21:171–180
   PubMedGoogle Scholar
• Sato M, Oshika T, Kaji Y, Nose H. Three novel mutations in the X-linked juvenile retinoschisis (XLRS1) gene in 6 Japanese patients, 1 of whom had Turner's syndrome. Ophthalmic Res 2003;35:295–300
   PubMed Web of Science ®Google Scholar
• Simonelli F, Cennamo G, Ziviello C, et al. Clinical features of X linked juvenile retinoschisis associated with new mutations in the XLRS1 gene in Italian families. Br J Ophthalmol 2003;87:1130–1134
   PubMedGoogle Scholar
• Chan WM, Choy KW, Wang J, et al. Two cases of X-linked juvenile retinoschisis with different optical coherence tomography findings and RS1 gene mutations. Clin Experiment Ophthalmol 2004;32:429–432
   PubMedGoogle Scholar
• 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
   PubMed Web of Science ®Google Scholar