Macular corneal dystrophy and associated corneal thinning
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F14%3A10282071" target="_blank" >RIV/00216208:11110/14:10282071 - isvavai.cz</a>
Alternative codes found
RIV/00064165:_____/14:10282071
Result on the web
<a href="http://dx.doi.org/10.1038/eye.2014.164" target="_blank" >http://dx.doi.org/10.1038/eye.2014.164</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1038/eye.2014.164" target="_blank" >10.1038/eye.2014.164</a>
Alternative languages
Result language
angličtina
Original language name
Macular corneal dystrophy and associated corneal thinning
Original language description
PurposeTo identify the molecular genetic cause of macular corneal dystrophy (MCD) in four probands, and characterize phenotypic similarities between MCD and keratoconus.MethodsWe performed ophthalmological examination, Scheimpflug imaging (Pentacam, Oculus Inc.), histopathological examination of excised corneal buttons, and direct sequencing of the CHST6 coding region.ResultsPentacam measurements were taken in six eyes of three probands. All showed diffuse corneal thinning with paracentral steepening ofthe 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).DiscussionLocalized elevation of the anterior corneal curvature can occur in MCD in the absence of other features of keratoconus. The identification of a fu
Czech name
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Czech description
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Classification
Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
FF - ENT (ie. ear, nose, throat), ophthalmology, dentistry
OECD FORD branch
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Result continuities
Project
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Continuities
S - Specificky vyzkum na vysokych skolach<br>I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2014
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Eye
ISSN
0950-222X
e-ISSN
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Volume of the periodical
28
Issue of the periodical within the volume
10
Country of publishing house
GB - UNITED KINGDOM
Number of pages
5
Pages from-to
1201-1205
UT code for WoS article
000343771100009
EID of the result in the Scopus database
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