Ontology highlight
ABSTRACT:
SUBMITTER: Dudakova L
PROVIDER: S-EPMC4194335 | biostudies-literature | 2014 Oct
REPOSITORIES: biostudies-literature
Dudakova L L Palos M M Svobodova M M Bydzovsky J J Huna L L Jirsova K K Hardcastle A J AJ Tuft S J SJ Liskova P P
Eye (London, England) 20140801 10
<h4>Purpose</h4>To identify the molecular genetic cause of macular corneal dystrophy (MCD) in four probands, and characterize phenotypic similarities between MCD and keratoconus.<h4>Methods</h4>We performed ophthalmological examination, Scheimpflug imaging (Pentacam, Oculus Inc.), histopathological examination of excised corneal buttons, and direct sequencing of the CHST6 coding region.<h4>Results</h4>Pentacam measurements were taken in six eyes of three probands. All showed diffuse corneal thin ...[more]