Article
Severe corneal dystrophy phenotype caused by homozygous R124H keratoepithelin mutations.
Investigative ophthalmology & visual science - 1 Sept 1998
Okada M, Yamamoto S, Inoue Y, Watanabe H, Maeda N, Shimomura Y, Ishii Y, Tano Y
Abstract excerpt
PURPOSE: To determine the mutational status of the beta ig-h3 gene in five patients from four Japanese families affected with an unusual, severe form of corneal dystrophy. In these five cases, the corneas were remarkable for confluent round opacities in the superficial stromal layer. The beta ig-h3 gene coding for keratoepithelin was recently identified as the gene responsible for 5q-linked autosomal dominant...
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