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Article

Genotypic-Phenotypic Correlations of Hereditary Hyperferritinemia-Cataract Syndrome: Case Series of Three Brazilian Families.

International journal of molecular sciences - 25 Jul 2023

Zin Olivia A, Neves Luiza M, Cunha Daniela P, Motta Fabiana L, Agonigi Bruna N S, Horovitz Dafne D G, Almeida Daltro C, Malacarne Jocieli, Rodrigues Ana Paula S, Carvalho Adriana B, Rivello Cinthia A, Espariz Rita, Zin Andrea A, Sallum Juliana M F, Vasconcelos Zilton F M

Abstract excerpt

Hereditary hyperferritinemia-cataract syndrome (HHCS) is a rare, frequently misdiagnosed, autosomal dominant disease caused by mutations in the FTL gene. It causes bilateral pediatric cataract and hyperferritinemia without iron overload. The objective of this case series, describing three Brazilian families, is to increase awareness of HHCS, as well as to discuss possible phenotypic interactions with concurrent...

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PMID: 37569253
DOI: 10.3390/ijms241511876
PMCID: PMC10419074

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