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.
Authors
- Murat Erdoğan (ORCID: https://orcid.org/0000-0001-8768-4457)
Institutions
- Kayseri Eğitim ve Araştırma Hastanesi (TR)
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