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

Autor:	Vincenzo Petitti, Francesca Clementina Radio, Paola Grammatico, Paolo Palumbo, Fabrizio Zeri, Peter G. Swann, Ilaria Cosentino, Silvia Majore
Přispěvatelé:	Cosentino, I, Zeri, F, Swann, P, Majore, S, Radio, F, Palumbo, P, Grammatico, P, Petitti, V
Rok vydání:	2016
Předmět:	0301 basic medicine Adult Male Iron metabolism disorder medicine.medical_specialty hyperferritinemia-cataract syndrome L-ferritin gene Cataract 03 medical and health sciences 0302 clinical medicine Internal medicine Medicine iron responsive element Humans Sibling Serum ferritin Genetics (clinical) Normal range chemistry.chemical_classification medicine.diagnostic_test business.industry Transferrin saturation Transferrin Middle Aged Iron Metabolism Disorders Surgery Pedigree Ophthalmology 030104 developmental biology Endocrinology chemistry Italy Pediatrics Perinatology and Child Health Apoferritins Ferritins 030221 ophthalmology & optometry Serum iron Female sense organs Hyperferritinemia cataract syndrome business Follow-Up Studies
Zdroj:	Ophthalmic genetics. 37(3)
ISSN:	1744-5094
Popis:	Background: 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. Methods: 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. Results: 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. Conclusions: 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.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e3ccc1b8f900091e61077e23c4bcd183 https://pubmed.ncbi.nlm.nih.gov/26849797 Zobrazit plný text záznamu Plný text ve formátu PDF Plný text ve formátu HTML
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