伴有色素性视网膜炎和闭角型青光眼的家族性肾病。

Familial nephropathy with retinitis pigmentosa and closed-angle glaucoma.

作者信息

Fiore C, Santoni G, Reggiani F M, Buoncristiani U, Pasticci B

出版信息

Ophthalmic Paediatr Genet. 1985 Feb;5(1-2):39-49. doi: 10.3109/13816818509007854.

Abstract

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).

摘要

本文描述了一种伴有视网膜色素变性和闭角型青光眼并呈常染色体显性遗传模式的肾综合征。该综合征的确切分类尚不清楚，但可能是奥尔波特综合征或肾单位肾痨（Senior-Biochis综合征）的一种变体。