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
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.