Mitsui M, Sakimoto T, Sawa M, Katami M
Department of Ophthalmology Nihon University School of Medicine, Tokyo, Japan.
Nippon Ganka Gakkai Zasshi. 1996 Nov;100(11):916-9.
We report a familial case of keratoconus with corneal granular dystrophy. The mother and first son have both keratoconus and corneal granular dystrophy and the second son has keratoconus alone. The keratoconus in this family is thought to be an autosomal dominant or an X-linked inheritance pattern. Granular dystrophy is an autosomal dominant inheritance. This familial case suggests that the gene loci of the two diseases are close together or have a close relationship.
我们报告了一例圆锥角膜合并角膜颗粒状营养不良的家族病例。母亲和大儿子同时患有圆锥角膜和角膜颗粒状营养不良,二儿子仅患有圆锥角膜。该家族中的圆锥角膜被认为是常染色体显性或X连锁遗传模式。颗粒状营养不良是常染色体显性遗传。这个家族病例表明这两种疾病的基因位点紧密相邻或存在密切关系。