Elevated serum ferritin level with cataract of spectacular morphology: Hyperferritinemia-cataract syndrome

Abstract

Hyperferritinemia-cataract syndrome, characterized by high serum ferritin concentration and cataracts in early life, remains a less-known rare disease, with fewer than 100 families reported worldwide. Though benign, high ferritin levels frequently result in misdiagnosis with iron storage disease, and patients can be exposed to unnecessary, even invasive, evaluation and treatment procedures. The presence of cataract together with isolated serum ferritin elevation should alert clinicians to consider this syndrome. We herein present a new family with hyperferritinemia-cataract syndrome to increase clinical awareness.

Keywords:

• c-160A > G (40A > G) mutation
• FTL gene
• hyperferritinemia-cataract syndrome
• Turkish family

Acknowledgments

The authors thank the proband and her family for their willing participation in this study, María-Josefa Morán-Jiménez (Centro de Investigación Instituto de Investigación Hospital 12 de Octubre Avenida de Córdoba s/n 28041 Madrid Spain) for her analysis of the mutation of our family, Yekta Yakal for preparing the figures, and Mrs. Corinne Logue Can for her language editing.

Disclosure of interest

The authors have no conflicts of interest relevant to this article to disclose.