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同一家庭中视网膜色素上皮营养不良的不同表现(作者译)

[Different manifestations of tapetoretinal degeneration in the same family (author's transl)].

作者信息

Fiore C

出版信息

J Fr Ophtalmol. 1981;4(5):431-40.

PMID:7310068
Abstract

A family with two siblings with six cases of tapetoretinal degeneration is reported. In the first case one individual present a degeneration of both scotopic and photopic visual systems, whereas another patient had macular degeneration of the Stargardt type. In the second, there was one case of photopic and stotopic degeneration, one case of fundus flavimaculatus, one case of Stargardt disease, and one case of retinitis pigmentosa inversa. The study of this family suggests on the one hand that Stargardt disease and fundus flavimaculatus are expressions of the same disease. On the other hand, the simultaneous presence of central and diffuse alterations of the fundus raises the question as to whether these various forms of hereditary degeneration may be included in a single class of disease.

摘要

报道了一个有两个兄弟姐妹且出现6例视网膜色素变性的家庭。在第一个病例中,一名个体同时出现了暗视觉和明视觉系统的退化,而另一名患者患有斯塔加特氏型黄斑变性。在第二个病例中,有1例明视觉和暗视觉退化、1例黄斑黄白色病变、1例斯塔加特病和1例反向性视网膜色素变性。对这个家庭的研究一方面表明斯塔加特病和黄斑黄白色病变是同一种疾病的表现形式。另一方面,眼底中央和弥漫性改变的同时出现引发了一个问题,即这些各种形式的遗传性退化是否可能归为单一类疾病。

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