Atypical vortex pattern of corneal deposits in granular corneal dystrophy

被引:2
|
作者
Aldave, AJ
Yellore, VS
Hwang, DG
机构
[1] Univ Calif Los Angeles, Jules Stein Eye Inst, Dept Ophthalmol, Cornea Serv, Los Angeles, CA 90095 USA
[2] Univ Calif San Francisco, Dept Ophthalmol, Cornea Serv, San Francisco, CA 94143 USA
关键词
granular corneal dystrophy; TGFB1; beta ig-h3; keratoepithelin; vortex keratopathy;
D O I
10.1097/00003226-200311000-00008
中图分类号
R77 [眼科学];
学科分类号
100212 ;
摘要
Purpose: To report the appearance of an unusual vortex pattern of corneal deposits in two patients with the R555W mutation in the transforming growth factor beta-induced gene (TGFB1) associated with granular corneal dystrophy. Methods: DNA from affected patients and unaffected relatives was isolated from buccal swabs, and TGFB1 mutation screening was performed. Results: The proband and an affected daughter demonstrated rays of deposits emanating from a point in the inferior cornea of each eye in a "sea fan" or vortex pattern. Screening all 17 exons of TGFB1 in the proband identified a single missense mutation (C1710T) in exon 12, consistent with the diagnosis of granular corneal dystrophy. The identical mutation was identified in the affected daughter. Conclusions: in spite of the strict phenotype-genotype correlation reported for the TGFB1-associated corneal dystrophies, atypical clinical findings may be produced by previously identified, conserved mutations. Key Words: granular corneal dystrophy, TGFB1, betaig-h3, keratoepithelin, vortex keratopathy.
引用
收藏
页码:754 / 759
页数:6
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