Familial nephropathy with retinitis pigmentosa and closed-angle glaucoma.
A renal syndrome with tapetoretinal degeneration and closed-angled glaucoma and transmitted in an autosomal dominant pattern is described. The precise classification of this syndrome is unclear but may represent a variant of Alport syndrome or nephronophthisis (Senior-Biochis syndrome).
D000328:Adult; D000368:Aged; D002648:Child; D005260:Female; D005799:Genes, Dominant; D005901:Glaucoma / Q000150:complications / Q000235:genetics*; D006801:Humans; D007674:Kidney Diseases / Q000150:complications / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D012174:Retinitis Pigmentosa / Q000150:complications / Q000235:genetics*; D013577:Syndrome; D014794:Visual Fields