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Rare Mutation Causes Vitamin A Deficiency and Eye Deformities

Altered protein highlights unique form of genetic inheritance
April 23, 2015

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.