Hyperferritinemia Cataract Syndrome
It is possible that the main title of the report Hyperferritinemia Cataract Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
- hereditary hyperferritinemia cataract syndrome
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.
NIH/National Eye Institute
31 Center Dr
Bethesda, MD 20892-2510
Iron Disorders Institute
PO Box 675
Taylors, SC 29687
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126