遗传性卵黄样黄斑变性：单一谱系内的可变眼底表现。

Hereditary vitelliform macular degeneration: variable fundus findings within a single pedigree.

作者信息

Maloney W F, Robertson D M, Duboff S M

出版信息

Arch Ophthalmol. 1977 Jun;95(6):979-83. doi: 10.1001/archopht.1977.04450060065003.

DOI:10.1001/archopht.1977.04450060065003

Abstract

A pedigree of 141 persons with hereditary vitelliform macular degeneration was studied. Of the 80 patients examined, 20 were affected. Fundus photographs of selected lesions in this pedigree demonstrated the broad spectrum of phenotypic expression of this hereditary disorder. This entity has an extremely variable expression even among affected members of the same family.

摘要

对一个有141人的遗传性卵黄样黄斑变性家系进行了研究。在检查的80名患者中，有20人患病。该家系中选定病变的眼底照片显示了这种遗传性疾病广泛的表型表达范围。即使在同一家族的患病成员中，这种疾病的表现也极具变异性。