A family with vitreo-tapeto-retino-choroidal degeneration with dominant transmission.
A family with vitreo-tapeto-retino-choroidal degeneration is presented. Five members of a sibship of nine and their mother are affected. Retinal changes in the form of macular degeneration and peripheral preretinal membranes are the most prominent features. Other manifestations are vitreous degeneration, optic atrophy, equatorial pigmentation, and complicated cataract. The heredity is probably autosomal dominant. Comparisons are made with the well-known hereditary vitreo-retinal degenerations, in particular with Wagner's disease. Above all, the extensive macular degeneration in two of the patients, involving the retina, the pigment epithelium, and the choriocapillaris, distinguishes the present disorder from the above-mentioned.
D000293:Adolescent; D000328:Adult; D002648:Child; D002829:Choroid; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D003937:Diagnosis, Differential; D005128:Eye Diseases / Q000175:diagnosis / Q000235:genetics; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008266:Macula Lutea; D008268:Macular Degeneration / Q000235:genetics; D008297:Male; D008566:Membranes; D008875:Middle Aged; D009216:Myopia / Q000175:diagnosis; D009755:Night Blindness / Q000175:diagnosis; D010857:Pigment Epithelium of Eye; D012162:Retinal Degeneration / Q000235:genetics*; D013577:Syndrome; D014603:Uveal Diseases / Q000235:genetics; D014822:Vitreous Body