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Researchers identify gene mutation that can cause key-hole shape defect in eye

A scientific collaboration, involving the Manchester Centre for Genomic Medicine (MCGM) at Saint Mary's Hospital, UK, and the Telethon Institute of Genetics and Medicine (TIGEM) in Naples, Italy, has pinpointed the genetic cause of a rare form of blindness, which can present itself as a key-hole shaped defect in the eye in newborn babies.