Young W O, Small K W
Department of Ophthalmology, Medical University of South Carolina, Charleston.
Ophthalmic Paediatr Genet. 1993 Mar;14(1):23-7. doi: 10.3109/13816819309087619.
Pigmented paravenous retinochoroidal atrophy (PPRCA) is a rare retinal disorder which is diagnosed primarily on its typical funduscopic appearance of retinal pigment epithelial atrophy and clumping in a paravenous distribution. Pigmented paravenous retinochoroidal atrophy is usually asymptomatic and seldom causes marked decrease in visual acuity or significant impairment of electrophysiologic functions. Optic nerve head drusen, which are thought to be inherited as an autosomal dominant trait, rare in blacks, and known to be associated with retinitis pigmentosa, have not been previously reported with PPRCA. The authors present a case of PPRCA which is classic except for an additional finding of optic nerve head drusen. The heritability of PPRCA remains controversial but the authors' reported association of PPRCA and disc drusen seems to suggest some genetic influence.
色素性静脉旁视网膜脉络膜萎缩（PPRCA）是一种罕见的视网膜疾病，主要根据其典型的眼底表现进行诊断，即视网膜色素上皮萎缩并呈静脉旁分布的团块样改变。色素性静脉旁视网膜脉络膜萎缩通常无症状，很少导致视力显著下降或电生理功能严重受损。视神经乳头 drusen 被认为是常染色体显性遗传性状，在黑人中罕见，且已知与色素性视网膜炎有关，此前尚未有与 PPRCA 相关的报道。作者报告了一例 PPRCA 病例，该病例除了额外发现视神经乳头 drusen 外，其余表现均典型。PPRCA 的遗传方式仍存在争议，但作者报告的 PPRCA 与视盘 drusen 的关联似乎提示了一些遗传影响。
