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Macular corneal dystrophy and associated corneal thinning
L. Dudakova, M. Palos, M. Svobodova, J. Bydzovsky, L. Huna, K. Jirsova, AJ. Hardcastle, SJ. Tuft, P. Liskova,
Language English Country England, Great Britain
Document type Journal Article, Research Support, Non-U.S. Gov't
NLK
Free Medical Journals
from 2011
PubMed Central
from 2011 to 1 year ago
Europe PubMed Central
from 2011 to 1 year ago
ProQuest Central
from 2002-01-01 to 1 year ago
Open Access Digital Library
from 2002-01-01
Medline Complete (EBSCOhost)
from 2002-01-01 to 2015-11-30
Health & Medicine (ProQuest)
from 2002-01-01 to 1 year ago
PubMed
25081284
DOI
10.1038/eye.2014.164
Knihovny.cz E-resources
- MeSH
- Corneal Dystrophies, Hereditary genetics pathology MeSH
- Adult MeSH
- Humans MeSH
- Adolescent MeSH
- Mutation * MeSH
- Corneal Pachymetry MeSH
- Cornea pathology MeSH
- Corneal Topography MeSH
- Sulfotransferases genetics MeSH
- Organ Size MeSH
- Check Tag
- Adult MeSH
- Humans MeSH
- Adolescent MeSH
- Male MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
- Research Support, Non-U.S. Gov't 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.
References provided by Crossref.org
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