Autosomal dominant pattern dystrophy of the retinal pigment epithelium. Intrafamilial variability.
Three members of a family were affected by a pattern dystrophy of the retinal pigment epithelium transmitted by autosomal dominant inheritance. In addition to grossly impaired electro-oculograms and normal electroretinograms, the patients showed lesions of the fundus of the eye recalling those seen in Best's disease, multifocal Best's disease, and pattern dystrophies. The intrafamilial variability of the fundus lesions showed by this pattern dystrophy demonstrates the problems in the diagnosis of some dystrophies of this group.
Giuffrè
G
G
Istituto di Clinica Oculistica dell'Università, Palermo, Italy.
D000293:Adolescent; D000328:Adult; D004585:Electrooculography; D004596:Electroretinography; D005260:Female; D005451:Fluorescein Angiography; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D010857:Pigment Epithelium of Eye; D012162:Retinal Degeneration / Q000175:diagnosis / Q000235:genetics*