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

Genetic factors, while rare, are a significant cause of hyperferritinemia. In cases where hyperferritinemia is accompanied by early-onset cataracts, genetic etiologies should be considered. Multidisciplinary evaluation of patients can help avoid unnecessary treatments and improve quality of life through timely interventions.

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Publication Details

Journal
Ophthalmic Genetics
Published
2025-02-23
DOI
https://doi.org/10.1080/13816810.2025.2470200
Primary Topic
Iron Metabolism and Disorders
Type
article
Field-Weighted Citation Impact
0.00
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article

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

Murat Erdoğan
Ophthalmic Genetics
Iron Metabolism and Disorders
article

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

Murat Erdoğan
article en

Abstract

Genetic factors, while rare, are a significant cause of hyperferritinemia. In cases where hyperferritinemia is accompanied by early-onset cataracts, genetic etiologies should be considered. Multidisciplinary evaluation of patients can help avoid unnecessary treatments and improve quality of life through timely interventions.

Ophthalmic GeneticsVol. 46(3)
Kayseri Eğitim ve Araştırma Hastanesi (TR)
Good health and well-being
Openalex Percentile: Top 96%
Iron Metabolism and Disorders
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Novel ferritin L-chain gene variant in a case of hereditary hyperferritinemia-cataract syndrome without family history — Murat Erdoğan · Ophthalmic Genetics (2025) | TGRS Research Map | TGRS