Article
Surgical management and genetic analysis of a Chinese family with the S171P mutation in the UBIAD1 gene, the gene for Schnyder corneal dystrophy.
The British journal of ophthalmology - 1 Jul 2009
Mehta J S, Vithana E N, Venkataraman D, Venkatraman A, Yong V H K, Aung T, Tan D T H
Abstract excerpt
BACKGROUND: To describe the underlying molecular genetic basis, surgical management and phenotypic variation of Schnyder corneal dystrophy (SCD) identified in a four-generation Chinese family. METHODS: This is an interventional case series of 13 members from a non-consanguineous Chinese family. All patients underwent complete ophthalmological examination and slit-lamp photography. Subsequent corneal...
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