圆锥角膜合并角膜颗粒状营养不良的家族性病例。

Familial case of keratoconus with corneal granular dystrophy.

作者信息

Mitsui M, Sakimoto T, Sawa M, Katami M

机构信息

Department of Ophthalmology Nihon University School of Medicine, Tokyo, Japan.

出版信息

Jpn J Ophthalmol. 1998 Sep-Oct;42(5):385-8. doi: 10.1016/s0021-5155(98)00028-8.

DOI:10.1016/s0021-5155(98)00028-8

PMID:9822968

Abstract

A family with keratoconus combined with corneal granular dystrophy is reported. The patients are a mother and her two sons. The mother and her elder son have both keratoconus and corneal granular dystrophy; the younger son has keratoconus. Thus, the keratoconus in this family is thought to be of autosomal dominant inheritance. These familial cases suggest that the gene loci for both diseases localize in proximity or have a close relationship.

摘要

报道了一个圆锥角膜合并角膜颗粒状营养不良的家系。患者为一位母亲及其两个儿子。母亲和她的大儿子同时患有圆锥角膜和角膜颗粒状营养不良；小儿子患有圆锥角膜。因此，该家系中的圆锥角膜被认为是常染色体显性遗传。这些家族性病例提示这两种疾病的基因位点定位相近或存在密切关系。