Severe juvenile retinoschisis associated with a 33-bps deletion in XLRS1 gene

Ophthalmic Genetics

Volumn 20, Issue 1, 1999, Pages 57-61

  Shinoda, Kei ^a   Mashima, Yukihiko ^a   Ishida, Susumu ^a   Oguchi, Yoshihisa ^a  

^a KEIO UNIVERSITY   (Japan)

Author keywords

Deletion; Lamellar macular hole; Macular retinoschisis; X linked juvenile retinoschisis; XLRS1 gene

Indexed keywords

ARTICLE; CASE REPORT; DELETION MUTANT; DISEASE SEVERITY; EXON; HUMAN; INTRON; MALE; MENTAL DEFICIENCY; PRIORITY JOURNAL; RETINA DYSTROPHY; RETINA FOVEA; RETINA MACULA HOLE; RETINA NERVE CELL; RETINOSCHISIS; SCHOOL CHILD; VITREORETINOPATHY; X CHROMOSOME LINKAGE;

EID: 0032807955     PISSN: 01676784     EISSN: None     Source Type: Journal    
DOI: 10.1076/opge.20.1.57.2303     Document Type: Article

References (28)

1. Deutman AF. Sex-linked juvenile retinoschisis. In: Deutman AF, editor. The Hereditary Dystrophies of the Posterior Pole of the Eye. Assen, the Netherlands: Van Gorcum, 1971; 48-98.
2. Gieser EP, Falls HF. Hereditary retinoschisis. Am J Ophthalmol 1961;51:1193-1200.
3. Yanoff M, Rahn EK, Zimmerman LE. Histopathology of juvenile retinoschisis. Arch Ophthalmol 1968;79:49-53.
4. Condon GP, Brownstein S, Wang NS, Kearns JAF, Ewing CC. Congenital hereditary (juvenile X-linked) retinoschisis. Histopathologic and ultrastructural findings in three eyes. Arch Ophthalmol 1986;104:576-583.
5. Manschot WA. Pathology of hereditary juvenile retinoschisis. Arch Ophthalmol 1972;88:131-137.
6. Peachey NS, Fishman GA, Derlacki DJ, Brigell MIG. Psychophysical and electroretinographic findings in X-linked juvenile retinoschisis. Arch Ophthalmol 1987;105:513-516.
7. Sieving PA, Bingham EL, Roth MS, Young MR, Boehnke M, Kuo CY, Ginsburg D. Linkage relationship of X-linked juvenile retinoschisis with Xp22.1-22.3probes. Am J Hum Genet 1990;47:616-621.
8. Shastry BS, Hejtmancik JF, Rodriguez A, Rodriguez F, Tamayo ML. Linkage mapping of a large Colombian family segregating for X linked retinoschisis: refinement of the chromosomal location. J Med Genet 1997;34:504-506.
9. Huopaniemi L, Rantala A, Tahvanainen E, De la Chapelle A, Alitalo T. Linkage disequilibrium and physical mapping of X-linked juvenile retinoschisis. Am J Hum Genet 1997;60:1139-1149.
10. Van de Vosse E, Bergen AA, Meershoek EJ, Oosterwijk JC, Gregory S, Bakker B, Weissenbach J, Van Ommen GJ, Den Dunnen JT. An Xp22.1-22.2 YAC contig encompassing the disease loci for RS, KFSD, CLS, HYP and RP15: refined localization of RS. Eur J Hum Genet 1996;4:101-104.
11. Sauer CG, Gehrig A, Warnekewittstock R, Marquardt A, Ewing CC, Gibson A, Lorez B, Jurklies B, Weber BHF. Positional cloning of the gene associated with X-linked juvenile retinoschisis. Nat Genet 1997;17:164-170.
12. George NDL, Yates JRW, Moore AT. Clinical features in affected males with X-linked retinoschisis. Arch Ophthalmol 1996;114:274-280.
13. Ballian JV, Falls HF. Congenital vascular veils in the vitreous. Arch Ophthalmol 1960;63:116-125.
14. Kawano K, Tanaka K, Murakami F, Ohba N. Congenital hereditary retinoschisis: evolution at the initial stage. Arch Clin Exp Ophthalmol 1981;217:315-323.
15. Green JL, Jampol LM. Vascular opacification and leakage in X-linked (juvenile) retinoschisis. Br J Ophthalmol 1979;63:368-373.
16. Keunen TEE, Hopppenbrouwers RWJN. A case of sex-linked juvenile retinoschisis with peripheral vascular abnormalies. Ophthalmologica 1985; 191:146-149.
17. Pearson R, Jagger J. Sex linked juvenile retinoschisis with optic disc and peripheral retinal neovascularization. Br J Ophthalmol 1989;73:311-313.
18. Greven CM, Moreno RJ, Tasman WS. Unusual manifestations of X-linked retinoschisis. Trans Am Ophthalmol Soc 1990;88:211-225.
19. Schulman J, Peyman GA, Jednock N, Larson B. Indications for vitrectomy in congenital retinoschisis. Br J Ophthalmol 1985;69:482-486.
20. Regillo CD, Tasman WS, Brown GC. Surgical management of complications associated with X-linked retinoschisis. Arch Ophthalmol 1993;111:1080-1086.
21. Turut P, Francois P, Castier P, Milazzo S. Analysis of results in the treatment of peripheral retinoschisis in sex-linked congenital retinoschisis. Graefes Arch Clin Exp Ophthalmol 1989;227:328-331.
22. Kellner U, Brummer S, Foerster MH, Wessing A. X-linked congenital retinoschisis. Arch Clin Exp Ophthalmol 1990;228:432-437.
23. Fong DS, Frederick AR, Blumenkranz MS, Walton DS. Exudative retinal detachment in X-linked retinoschisis. Ophthalmic Surg Lasers 1998;29:332-335.
24. Sabates F. Juvenile retinoschisis. Am J Ophthalmol 1966;62:683-688.
25. 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.
26. Harris GS, Yeung JWS. Maculopathy of sex-linked juvenile retinoschisis. Can J Ophthalmol 1976;11:1-10.
27. Azzolini C, Pierro L, Codenotti M, Brancato R. OCT images and surgery of juvenile macular retinoschisis. Eur J Ophthalmol 1998;7:196-200.
28. Rutledge BK, Puliafito CA, Duker JS, Hee MR, Cox MS. Optical coherence tomography of macular lesions associated with optic nerve head pits. Ophthalmology 1996;103:1047-1053.