Hyperferritinemia-cataract syndrome: Long-term ophthalmic observations in an Italian family

Consentino, Iiaria, Zeri, Fabrizio, Swann, Peter G., Majore, Silvia, Radio, Francesca, Palumbo, Paolo, Grammatico, Paola, & Petitti, Vincenzo (2016) Hyperferritinemia-cataract syndrome: Long-term ophthalmic observations in an Italian family. Ophthalmic Genetics, 37(3), pp. 318-322.

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Hyperferritinemia-cataract syndrome (HCS) is a rare Mendelian condition characterized by bilateral cataract and high levels of serum ferritin in the absence of iron overload.


HCS was diagnosed in three adult siblings. In two of them it was possible to assess lens changes initially in 1995 and again in 2013. Serum ferritin, iron, transferrin concentrations and transferrin saturation percentage were also measured, and the Iron Responsive Element (IRE) region of the L-ferritin gene (FTL) was studied.


Serum ferritin concentrations were considerably elevated while serum iron, transferrin and transferrin saturation levels were within the normal range in each sibling. Cataract changes in our patients were consistent with those previously reported in the literature. Progression of the cataract, an aspect of few studies in this syndrome, appeared to be quite limited in extent. The heterozygous +32G to T (-168G>T) substitution in the IRE of the FTL gene was detected in this family.


Ophthalmic and biochemical studies together with genetic testing confirmed HCS in three family members. Although the disorder has been extensively described in recent years, little is known regarding cataract evolution over time. In our cases, lens evaluations encompassed many years, identified bilateral cataract of typical morphology and supported the hypothesis that this unique clinical feature of the disease tends to be slowly progressive in nature, at least in adults.

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ID Code: 92752
Item Type: Journal Article
Refereed: Yes
Keywords: Cataract, Hyperferritinemia syndrome, Iron responsive element, L-ferritin gene
DOI: 10.3109/13816810.2015.1059460
ISSN: 1744-5094
Divisions: Current > QUT Faculties and Divisions > Faculty of Health
Current > Schools > School of Optometry & Vision Science
Copyright Owner: Copyright 2016 Taylor and Francis
Copyright Statement: The Version of Record of this manuscript has been published and is available in Ophthalmic Genetics, 05 February 2016, http://www.tandfonline.com/10.3109/13816810.2015.1059460
Deposited On: 10 Feb 2016 00:04
Last Modified: 27 Aug 2016 03:47

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