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Article

Macular corneal dystrophy and associated corneal thinning.

Eye (London, England) - 1 Oct 2014

Dudakova L, Palos M, Svobodova M, Bydzovsky J, Huna L, Jirsova K, Hardcastle A J, Tuft S J, Liskova P

Abstract excerpt

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...

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Source

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Identifiers

PMID: 25081284
DOI: 10.1038/eye.2014.164
PMCID: PMC4194335

Genes

CHST6

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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