Rare Mutation Causes Vitamin A Deficiency and Eye Deformities

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Altered protein highlights unique form of genetic inheritance

April 23, 2015

Genetics Microphthalmia

Clinical Research

Grantee

Researchers at the University of Michigan and UC Davis have solved a genetic mystery that has afflicted three unrelated families, and possibly others, for generations. These families have been plagued by a variety of congenital eye malformations, including small eyes, with poor vision, and the complete absence of eyes. But until now, no one could figure out the genetic basis for these conditions.