Macular corneal dystrophy and associated corneal thinning.

ABSTRACT:

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, includin

SUBMITTER: Dudakova L 

PROVIDER: S-EPMC4194335 | biostudies-literature | 2014 Oct

REPOSITORIES: biostudies-literature