Sorsby fundus dystrophy - A family with the Ser181Cys mutation of the tissue inhibitor of metalloproteinases 3

被引：24

作者：

CarreroValenzuela, RD

Klein, ML

Weleber, RG

Murphey, WH

Litt, M

机构：

[1] OREGON HLTH SCI UNIV,DEPT MOLEC & MED GENET,PORTLAND,OR 97201

[2] OREGON HLTH SCI UNIV,DEPT OPHTHALMOL,PORTLAND,OR 97201

[3] OREGON HLTH SCI UNIV,DEPT BIOCHEM,PORTLAND,OR 97201

来源：

ARCHIVES OF OPHTHALMOLOGY | 1996年 / 114卷 / 06期

关键词：

D O I：

10.1001/archopht.1996.01100130729016

中图分类号：

R77 [眼科学];

学科分类号：

100212 ;

摘要：

Sorsby Fundus dystrophy (SFD) is an autosomal dominant disorder that is characterized by bilateral loss of central vision secondary to choroidal neovascularization and/or pigment epithelial atrophy in the macula, with onset of visual symptoms usually in the fourth or fifth decade. Drusenlike changes may occur, with impaired dark adaptation and abnormal electroretinographic results.

引用

页码：737 / 738

页数：2