Anterior basement membrane corneal dystrophy and pseudo unilateral lattice corneal dystrophy in a patient with recurrent corneal erosions

被引：6

作者：

Aldave, AJ ^{[1
]}

Lin, DY ^{[1
]}

Principe, AH ^{[1
]}

Yellore, VS ^{[1
]}

Weissman, BA ^{[1
]}

机构：

[1] Univ Calif Los Angeles, Jules Stein Eye Inst, Cornea Serv, Los Angeles, CA 90095 USA

来源：

AMERICAN JOURNAL OF OPHTHALMOLOGY | 2004年 / 137卷 / 06期

关键词：

D O I：

10.1016/j.ajo.2003.11.065

中图分类号：

R77 [眼科学];

学科分类号：

100212 ;

摘要：

PURPOSE: To report the utility of genetic testing in the diagnosis and management of patients with suspected corneal dystrophies. DESIGN: Case report. METHODS: A 58-year-old man with a history of recurrent corneal erosions was diagnosed with bilateral anterior basement membrane dystrophy and unilateral lattice corneal dystrophy. All 17 exons of the TGFBI gene were screened for mutations previously associated with lattice corneal dystrophy as well as novel coding region changes. RESULTS: No mutations were found in the 17 exons of the TGFBI gene. A nucleotide change in exon 6 (65 1 C > G) did not result in a change in the encoded amino acid (Leu217Leu). CONCLUSIONS: In cases of suspected TGFBI corneal dystrophies, genetic testing is a useful tool to confirm the clinical diagnosis. In this case of suspected unilateral lattice corneal dystrophy, screening of the TGFBI gene ruled out the diagnosis, raising the possibility that the corneal changes were related to the coexistent anterior basement membrane dystrophy. (C) 2004 by Elsevier Inc. All rights reserved.

引用

页码：1124 / 1127

页数：4

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