Hereditary hyperferritinaemia-cataract syndrome

Definition:

Hereditary hyperferritinaemia-cataract syndrome (HHCS) is an autosomal dominant disease characterized by hyperferritinemia without iron overload and early-onset bilateral cataract induced by L-ferritin accumulation in the lens. HHCS is caused by mutations in the iron responsive element (IRE) of the L-ferritin gene.

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