Generation and characterization of a murine model of Bietti crystalline dystrophy.

ABSTRACT:

Purpose

Bietti crystalline dystrophy (BCD) is a rare, autosomal recessive, progressive, degenerative eye disease caused by mutations in the CYP4V2 gene, for which no treatments are currently available. Cyp4v3 is the murine ortholog to CYP4V2, and to better understand the molecular pathogenesis of this disease we have established a Cyp4v3-null mouse line.

Methods

Cyp4v3(-/-) mice were generated by homologous recombination in embryonic stem cells. Ocular morphologic characteristics were evaluated via fundus imaging, plasma lipid profiling, and histologic analysis via Oil Red O reactivity, hematoxylin and eosin staining, and transmission electron microscopy.

Results

The Cyp4v3(-/-) mouse recapitulates the characteristic features of corneoretinal crystal accumulation and

SUBMITTER: Lockhart CM 

PROVIDER: S-EPMC4160072 | biostudies-literature | 2014 Aug

REPOSITORIES: biostudies-literature