原发性遗传性草酸尿症视网膜病变

Primary hereditary oxalosis retinopathy.

作者信息

Zak T A, Buncic R

出版信息

Arch Ophthalmol. 1983 Jan;101(1):78-80. doi: 10.1001/archopht.1983.01040010080013.

DOI:10.1001/archopht.1983.01040010080013

Abstract

A female infant had progressive atypical pigmentary retinopathy with type 1 hereditary oxalosis. At the age of 3 months she had a flecked retina type of retinopathy and six months later she exhibited a unique type of atypical pigmentary retinopathy. This latter abnormality was characterized by a dense parafoveal hyperpigmented ring five disc diameters in size, and composed of a confluence of small rings of hyperpigmented retinal pigment epithelium surrounding whitish highly refractile calcium oxalate crystalline deposits.

摘要

一名女婴患有进行性非典型色素性视网膜病变并伴有1型遗传性草酸尿症。3个月大时，她出现了斑点状视网膜型视网膜病变，6个月后，她表现出一种独特的非典型色素性视网膜病变。后一种异常表现为一个密集的中心凹旁色素沉着环，直径为5个视盘直径，由围绕白色高折射草酸钙晶体沉积物的色素性视网膜色素上皮小环融合而成。