Norrie Syndrome

Norrie Syndrome Defined     Norrie Syndrome is a rare inherited neurodevelopmental disorder characterized by blindness in both eyes (bilateral) at birth. Some children with this disorder may experience varying degrees of mental retardation. Other symptoms may include mild to profound hearing loss, growth delays, and/or diabetes. The lens of the eyes may become cloudy (cataracts) during early infancy and the eyeball may shrink (phthisis bulbi). The gene responsible for Norrie Syndrome is inherited as an X-linked recessive genetic trait.