Aqueous Humor Ferritin in Hereditary Hyperferritinemia Cataract Syndrome
| Autor: | Melchior Hohensinn, Herbert A. Reitsamer, Michael Strasser, Guenther Grabner, Andrea Trost, Alexandra Kaser-Eichberger, Elmar Aigner, Helmut Wiedemann, Falk Schroedl, Clemens Strohmaier, Martina U. Muckenthaler, Markus Lenzhofer |
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| Rok vydání: | 2015 |
| Předmět: |
Adult
Male medicine.medical_specialty medicine.medical_treatment DNA Mutational Analysis Aqueous humor Intraocular lens medicine.disease_cause Polymerase Chain Reaction Polymorphism Single Nucleotide Cataract law.invention Hereditary hyperferritinemia-cataract syndrome Aqueous Humor Lens Implantation Intraocular law Polymorphism (computer science) Internal medicine Lens Crystalline Humans Medicine Polymerase chain reaction Immunoassay Mutation Phacoemulsification biology business.industry Iron Metabolism Disorders eye diseases Bilateral Cataracts Ferritin Ophthalmology Endocrinology Ferritins biology.protein sense organs business Optometry |
| Zdroj: | Optometry and Vision Science. 92:S40-S47 |
| ISSN: | 1040-5488 |
| Popis: | PURPOSE Hereditary hyperferritinemia cataract syndrome (HHCS) is a rare autosomal dominant hereditary disease, characterized by hyperferritinemia but with absence of body iron excess and early onset of bilateral cataracts. Although 5- to 20-fold increased serum ferritin concentrations have been reported in HHCS patients, data of ferritin levels in aqueous humor have not been obtained. We therefore aimed to investigate the ferritin levels in aqueous humor and serum and further present histological and ultrastructural data of the lens. METHODS During cataract extraction and intraocular lens implantation, aqueous humor and lens aspirate of a 37-year-old HHCS patient were obtained from both eyes. Ferritin levels in serum and aqueous humor were quantitatively analyzed via immunoassays in the HHCS patient and healthy control subjects (n = 6). Lens aspirate in HHCS was analyzed histologically and at the ultrastructural level. Further, genetic mutation screening by polymerase chain reaction and DNA sequencing in blood was performed. RESULTS Serum ferritin levels in the control group were 142.2 ± 38.7 μg/L, whereas in the HHCS patient, this parameter was excessively increased (1086 μg/L). Analysis of ferritin in aqueous humor revealed 6.4 ± 3.8 μg/L in normal control subjects and 146.3 μg/L (OD) and 160.4 μg/L (OS) in the HHCS patient. DNA analysis detected a C>A mutation on position +18, a T>G mutation on position +22, a T>C mutation on position +24, and a T>G polymorphism on position +26 in the iron-responsive element of the light-chain ferritin (L-ferritin) gene. CONCLUSIONS In the HHCS patient, a 23-fold (OD) to 25-fold (OS) increased aqueous humor ferritin level was detected. Therefore, the formation of bilateral cataract in HHCS is most likely a result of elevated aqueous humor ferritin. In addition, a novel mutation in this rare disease in the iron-responsive element of L-ferritin gene is reported. |
| Databáze: | OpenAIRE |
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