Hyperferritinemia Cataract Syndrome
National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Hyperferritinemia Cataract Syndrome is not the name you expected.
Hyperferritinemia-cataract syndrome is an extremely rare genetic disorder characterized by the early onset of cataracts associated with persistently elevated levels of ferritin in the blood plasma. Ferritin is a protein that binds to iron and is used as an indicator of the body's iron stores. Cataracts are the only known complication associated with this disorder. Hyperferritinemia-cataract syndrome is caused by mutations to ferritin light chain (FTL) gene. This mutation is inherited as an autosomal dominant trait.
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Last Updated: 3/19/2012
Copyright 2012 National Organization for Rare Disorders, Inc.
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