Novel CYP4V2 mutations associated with Bietti crystalline corneoretinal dystrophy in Chinese patients.

ABSTRACT:

Aim

To analyze the CYP4V2 mutations in five unrelated Chinese patients with Bietti crystalline corneoretinal dystrophy (BCD) and to provide clinical features of these patients. BCD is a rare monogenic autosomal recessively inherited disorder characterized by the presence of crystals in the retina and retinal pigment epithelium atrophy. Mutations in the CYP4V2 gene have been found to be causative for BCD.

Methods

Ophthalmic examinations were carried out in the affected individuals. Peripheral blood samples were collected and genomic DNA was extracted. All exons and flanking intronic regions of the CYP4V2 gene were amplified with polymerase chain reaction and screened for mutations by direct DNA sequencing. One hundred control chromosomes were also screened to exclude nonpatho

SUBMITTER: Tian R 

PROVIDER: S-EPMC4458647 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature