- Publikační typ
- abstrakt z konference MeSH
- Publikační typ
- abstrakt z konference MeSH
- Publikační typ
- abstrakt z konference MeSH
Keratoconus is a bilateral disease characterized by progressive corneal thinning leading to irregular astigmatism that results in significant visual impairment. Despite extensive research, the exact etiopathogenesis of keratoconus remains unknown. Many copper-dependent enzymes such as superoxide dismutases, cytochrome c oxidase and lysyl oxidase have been shown to be altered in keratoconic corneas, and a decrease of copper levels in the diseased tissue has been reported as well. We propose a hypothesis linking all the putative pathways of keratoconus development and suggest that copper imbalance in corneal tissue may be an independent risk factor for the disease. The assessment of copper levels and its distribution in keratoconic corneas warrants further investigation.
- MeSH
- biologické modely * MeSH
- enzymy metabolismus MeSH
- keratokonus etiologie MeSH
- lidé MeSH
- měď nedostatek metabolismus MeSH
- rizikové faktory MeSH
- rohovka enzymologie metabolismus MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
PURPOSE: To identify the molecular genetic cause of macular corneal dystrophy (MCD) in four probands, and characterize phenotypic similarities between MCD and keratoconus. METHODS: We performed ophthalmological examination, Scheimpflug imaging (Pentacam, Oculus Inc.), histopathological examination of excised corneal buttons, and direct sequencing of the CHST6 coding region. RESULTS: Pentacam measurements were taken in six eyes of three probands. All showed diffuse corneal thinning with paracentral steepening of the anterior corneal surface that was graded as keratoconus by the integrated software, but without associated ectasia of the posterior corneal surface or regional thinning. Homozygous or compound heterozygous CHST6 mutations were identified in all cases, including two novel mutations, c.13C>T; p.(Arg5Cys) and c.289C>T; p.(Arg97Cys). DISCUSSION: Localized elevation of the anterior corneal curvature can occur in MCD in the absence of other features of keratoconus. The identification of a further two Czech probands with the compound allele c.[484C>G; 599T>G] supports the enrichment of this allele in the study population.
- MeSH
- dědičné dystrofie rohovky genetika patologie MeSH
- dospělí MeSH
- lidé MeSH
- mladiství MeSH
- mutace * MeSH
- pachymetrie rohovky MeSH
- rohovka patologie MeSH
- rohovková topografie MeSH
- sulfotransferasy genetika MeSH
- velikost orgánu MeSH
- Check Tag
- dospělí MeSH
- lidé MeSH
- mladiství MeSH
- mužské pohlaví MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
