莱伯先天性黑矇中的黄斑缺损

Macular colobomas in Leber's congenital amaurosis.

作者信息

Margolis S, Scher B M, Carr R E

出版信息

Am J Ophthalmol. 1977 Jan;83(1):27-31. doi: 10.1016/0002-9394(77)90187-8.

Abstract

Two siblings with Leber's congenital amaurosis had the unusual association of bilateral macular colobomas. In addition to the colobomas, the patients also had deafmutism, severe myopia, large corneas, and an unusual discrete area of peripapillary tapetoretinal sheen. Electrodiagnostic evaluation of patients with congenitally poor visual ascuity and a central retinal defect differentiated a localized loss of funciton from a degeneration involving the entire retina.

摘要

两名患有莱伯先天性黑矇的兄弟姐妹伴有双侧黄斑缺损这一不寻常的情况。除了黄斑缺损外，这两名患者还患有聋哑症、高度近视、大角膜以及视乳头周围视网膜光泽的一个不寻常的离散区域。对先天性视力差且有视网膜中央缺损的患者进行电诊断评估，可区分局部功能丧失与累及整个视网膜的变性。