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Article

Hereditary hyperferritinemia-cataract syndrome: prevalence, lens morphology, spectrum of mutations, and clinical presentations.

Archives of ophthalmology (Chicago, Ill. : 1960) - 1 Dec 2003

Craig Jamie E, Clark J Benedict, McLeod Janet L, Kirkland Mark A, Grant Glenys, Elder James E, Toohey Michael G, Kowal Lionel, Savoia Helen F, Chen Celia, Roberts Sarah, Wirth M Gabriela, Mackey David A

Abstract excerpt

OBJECTIVES: To provide a comprehensive description of the clinical presentations, cataract morphology, and molecular basis of hereditary hyperferritinemia-cataract syndrome (HHCS) in 4 Australian pedigrees and to estimate its prevalence. METHODS: All known cases of HHCS in southeastern Australia were ascertained. Family members provided a medical history and underwent physical examination, lens photography, and...

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PMID: 14662596
DOI: 10.1001/archopht.121.12.1753

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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