Autosomal dominant exudative vitreoretinopathy.
Eight family members had familial exudative vitreoretinopathy. They exhibited a variety of clinical stages of the disease process. Some clinical findings included retinal detachment, fibrovascular masses with dragged disc and macula, neovascular fronds and intraretinal deposits. The fundus and angiographic findings were found to be similar to those in cases reported previously. Electroretinograms were normal. Of particular interest in this pedigree was the sole clinical finding of isolated intraretinal deposits in four family members. This characteristic may represent a mild expression of the disease and warrant appropriate genetic counseling. Our study confirms the variable clinical expression of the disease.
D000328:Adult; D000368:Aged; D002675:Child, Preschool; D005128:Eye Diseases / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D012164:Retinal Diseases / Q000175:diagnosis / Q000235:genetics*; D014822:Vitreous Body