Hyperferritinemia Cataract Syndrome
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NORD is very grateful to Joshua L. Dunaief, MD, PhD, Associate Professor of Ophthalmology, F.M. Kirby Center for Molecular Ophthalmology, Scheie Eye Institute, University of Pennsylvania, for assistance in the preparation of this report.
Synonyms of Hyperferritinemia Cataract Syndrome
- hereditary hyperferritinemia cataract syndrome
- No subdivisions found.
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.
Organizations related to Hyperferritinemia Cataract Syndrome
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