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Article

Hereditary hyperferritinemia-cataract syndrome in three Czech families: molecular genetic testing and clinical implications.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus - 1 Dec 2020

Moravikova Jana, Honzik Tomas, Jadvidzakova Eva, Zdrahalova Katerina, Kremlikova Pourova Radka, Korbasova Marta, Liskova Petra, Dudakova Lubica

Abstract excerpt

BACKGROUND: Hereditary hyperferritinemia-cataract syndrome (HHCS) is an autosomal dominant disorder manifesting with high serum ferritin levels and the formation of early-onset cataracts, with numerous small opacities, predominantly in the lens cortex. HHCS is caused by mutations in the iron-responsive element of the FTL gene. The aim of this study was to establish a molecular diagnosis in three Czech probands...

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Identifiers

PMID: 33221470
DOI: 10.1016/j.jaapos.2020.07.014

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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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