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Article

Novel ferritin L-chain gene variant in a case of hereditary hyperferritinemia-cataract syndrome without family history.

Ophthalmic genetics - 1 Jun 2025

Erdogan Murat

Abstract excerpt

INTRODUCTION: Hereditary Hyperferritinemia-Cataract Syndrome (HHCS, MIM #600886) is a rare autosomal dominant genetic disorder characterized by elevated serum ferritin levels and early-onset cataracts. This condition is caused by mutations in the iron-responsive element (IRE) within the 5' untranslated region (UTR) of the ferritin light chain (FTL, *134790) gene. In this study, we report a case involving elevated...

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PMID: 39987942
DOI: 10.1080/13816810.2025.2470200

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FTL

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