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Article

Hereditary hyperferritinemia-cataract syndrome in two large multigenerational American families.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus - 1 Aug 2011

Shekunov Julia, de Groen Piet C, Lindor Noralane M, Klee George G, Aleff Ross A, Wieben Eric D, Mohney Brian G

Abstract excerpt

PURPOSE: Hereditary hyperferritinemia cataract syndrome (HHCS), an autosomal-dominant disorder characterized by hyperferritinemia and bilateral cataracts, is caused by mutations in the iron-responsive element of the ferritin light chain (FTL) gene. The purpose of this study is to describe the genotypic and phenotypic manifestations of HHCS observed in 2 large sets of unrelated American families. METHODS:...

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Source

Identifiers

PMID: 21907119
DOI: 10.1016/j.jaapos.2011.03.020

Genes

FTL

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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