Norrie disease is an inherited eye disorder that leads to blindness in male infants at birth or soon after birth. It causes abnormal development of the retina, with masses of immature retinal cells accumulating at the back of the eye. As a result, the pupils appear white when light is shone on them, a sign called leukocoria. The irises or the entire eyeballs may shrink and deteriorate during the first months of life, and cataracts may eventually develop. more...
About one third of individuals with Norrie disease develop progressive hearing loss, and more than half experience developmental delays in motor skills. Other problems may include mild to moderate mental retardation, often with psychosis, and abnormalities that can affect circulation, breathing, digestion, excretion, or reproduction.
Mutations in the NDP gene cause Norrie disease. The NDP gene produces a protein called norrin, which is believed to be crucial to normal development of the eye and other body systems. In particular, it seems to play a critical role in the specialization of retinal cells for their unique sensory capabilities. It is also involved in the establishment of a blood supply to tissues of the retina and the inner ear. This condition is inherited in an X-linked recessive pattern.
This article incorporates public domain text from The U.S. National Library of Medicine
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