About: Macular corneal dystrophy and associated corneal thinning

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An Entity of Type : http://linked.opendata.cz/ontology/domain/vavai/Vysledek, within Data Space : linked.opendata.cz associated with source document(s)

Attributes	Values
rdf:type	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
rdfs:seeAlso	http://dx.doi.org/10.1038/eye.2014.164
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 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).DiscussionLocalized 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. 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 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).DiscussionLocalized 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. (en)
Title	Macular corneal dystrophy and associated corneal thinning Macular corneal dystrophy and associated corneal thinning (en)
skos:prefLabel	Macular corneal dystrophy and associated corneal thinning Macular corneal dystrophy and associated corneal thinning (en)
skos:notation	RIV/00216208:11110/14:10282071!RIV15-MSM-11110___
http://linked.open...avai/riv/aktivita	I S
http://linked.open...avai/riv/aktivity	I, S
http://linked.open...iv/cisloPeriodika	10
http://linked.open...vai/riv/dodaniDat	2015
http://linked.open...aciTvurceVysledku	Ďuďáková, Ľubica Jirsová, Kateřina Palos, Michalis Lišková, Petra
http://linked.open.../riv/druhVysledku	J - Článek v odborném periodiku
http://linked.open...iv/duvernostUdaju	S - Úplné a pravdivé údaje nepodléhající ochraně podle zvláštních právních předpisů
http://linked.open...titaPredkladatele	Univerzita Karlova v Praze / 1. lékařská fakulta
http://linked.open...dnocenehoVysledku	26844
http://linked.open...ai/riv/idVysledku	RIV/00216208:11110/14:10282071
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	DISEASE; ANTERIOR; SUPPORTS; GENE; MUTATIONS; KERATOCONUS (en)
http://linked.open.../riv/klicoveSlovo	ANTERIOR KERATOCONUS SUPPORTS DISEASE GENE MUTATIONS
http://linked.open...odStatuVydavatele	GB - Spojené království Velké Británie a Severního Irska
http://linked.open...ontrolniKodProRIV	[8A3ABFBD8FD3]
http://linked.open...i/riv/nazevZdroje	Eye
http://linked.open...in/vavai/riv/obor	FF
http://linked.open...ichTvurcuVysledku	4 (xsd:int)
http://linked.open...cetTvurcuVysledku	9 (xsd:int)
http://linked.open...UplatneniVysledku	2014
http://linked.open...v/svazekPeriodika	28
http://linked.open...iv/tvurceVysledku	Lišková, Petra Jirsová, Kateřina Palos, Michalis Ďuďáková, Ľubica Bydžovský, Jan Svobodová, Markéta Tuft, S. J. Hardcastle, A. J. Huňa, Lukáš
http://linked.open...ain/vavai/riv/wos	000343771100009
issn	0950-222X
number of pages	5 (xsd:int)
http://bibframe.org/vocab/doi	10.1038/eye.2014.164
http://localhost/t...ganizacniJednotka	11110

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