Abstract | PURPOSE: 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.
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Authors | Markus Lenzhofer, Falk Schroedl, Andrea Trost, Alexandra Kaser-Eichberger, Helmut Wiedemann, Clemens Strohmaier, Melchior Hohensinn, Michael Strasser, Martina U Muckenthaler, Guenther Grabner, Elmar Aigner, Herbert A Reitsamer |
Journal | Optometry and vision science : official publication of the American Academy of Optometry
(Optom Vis Sci)
Vol. 92
Issue 4 Suppl 1
Pg. S40-7
(Apr 2015)
ISSN: 1538-9235 [Electronic] United States |
PMID | 25756341
(Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
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Topics |
- Adult
- Aqueous Humor
(metabolism)
- Cataract
(congenital, metabolism)
- DNA Mutational Analysis
- Ferritins
(blood, genetics)
- Humans
- Immunoassay
- Iron Metabolism Disorders
(congenital, metabolism)
- Lens Implantation, Intraocular
- Lens, Crystalline
(pathology)
- Male
- Mutation
- Phacoemulsification
- Polymerase Chain Reaction
- Polymorphism, Single Nucleotide
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