A novel UBIAD1 mutation identified in a Chinese family with Schnyder crystalline corneal dystrophy.

ABSTRACT:

Purpose

To identify the molecular defect causing Schnyder crystalline corneal dystrophy (SCCD) in a Chinese family with bilateral corneal abnormalities.

Methods

The Chinese SCCD family was subjected to a complete ophthalmic examination that included slit-lamp examination and slit-lamp photography to assess and document the crystalline deposits and arcus lipoides. In vivo laser scanning confocal microscopy and Fourier-domain OCT were also performed on both eyes of SCCD patients. Blood samples were taken for subsequent genetic analysis. The two coding exons of the UbiA prenyltransferase domain-containing protein 1 (UBIAD1) gene were screened for mutations by direct sequencing.

Results

We report on a novel heterozygous mutation of UBIAD1, G98S, in two patients with SCCD.

SUBMITTER: Jing Y 

PROVIDER: S-EPMC2718742 | biostudies-literature | 2009 Jul

REPOSITORIES: biostudies-literature