Coats' disease and congenital retinoschisis in a single eye: a case report and DNA analysis.
The clinical features of Coats' disease and congenital retinoschisis (RS) are distinctly different. Therefore, finding changes consistent with Coats' disease and congenital RS in a single eye is an unusual occurrence. The following report describes two cases with a Coats' telangiectatic lesion in one region of the retina separated by normal retina and the presence of central and peripheral congenital RS. Molecular genetic analysis of the Norrie disease and RS genes failed to identify disease-causing or polymorphic mutations in either of the genes, suggesting that the above condition is clinically and genetically a different disorder. Further studies are needed to identify the genes responsible for the above disorder and associated ocular manifestations.
Berinstein
D M
DM
Department of Ophthalmology, William Beaumont Hospital, Royal Oak, Mich., USA.
Hiraoka
M
M
Trese
M T
MT
Shastry
B S
BS
D002675:Child, Preschool; D004252:DNA Mutational Analysis; D006801:Humans; D007223:Infant; D008297:Male; D016133:Polymerase Chain Reaction; D012162:Retinal Degeneration / Q000150:complications* / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics; D012164:Retinal Diseases / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D012171:Retinal Vessels / Q000473:pathology*; D013684:Telangiectasis / Q000150:complications* / Q000175:diagnosis / Q000235:genetics