Coats' disease and congenital retinoschisis in a single eye: A case reportand DNA analysis

Citation
Dm. Berinstein et al., Coats' disease and congenital retinoschisis in a single eye: A case reportand DNA analysis, OPHTHALMOLA, 215(2), 2001, pp. 132-135
Citations number
14
Categorie Soggetti
Optalmology
Journal title
OPHTHALMOLOGICA
ISSN journal
00303755 → ACNP
Volume
215
Issue
2
Year of publication
2001
Pages
132 - 135
Database
ISI
SICI code
0030-3755(200103/04)215:2<132:CDACRI>2.0.ZU;2-V
Abstract
The clinical features of Coats' disease and congenital retinoschisis (RS) a re distinctly different. Therefore, finding changes consistent with Coats' disease and congenital RS in a single eye is an unusual occurrence. The fol lowing report describes two cases with a Coats' telangiectatic lesion in on e region of the retina separated by normal retina and the presence of centr al and peripheral congenital RS. Molecular genetic analysis of the Norrie d isease and RS genes failed to identify disease-causing or polymorphic mutat ions in either of the genes, suggesting that the above condition is clinica lly and genetically a different disorder. Further studies are needed to ide ntify the genes responsible for the above disorder and associated ocular ma nifestations. Copyright (C) 2001 S. Karger AG, Basel.