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Updated: Apr 25, 2026
In vivo Structural Assessments of Ocular Disease in Rodent Models using Optical Coherence Tomography
Published on: July 24, 2020
Generation and characterization of a murine model of Bietti crystalline dystrophy
Catherine M Lockhart1, Mariko Nakano2, Allan E Rettie2
1Department of Pharmaceutics, University of Washington, Seattle, Washington, United States.
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 systemic dyslipidemia seen in BCD. The Cyp4v3(-/-) mice behave normally and are viable and fertile when maintained under specific pathogen-free (SPF) housing conditions.
Conclusions:
Cyp4v3(-/-) mice represent a promising preclinical model that may be used to better understand the disease etiology and to evaluate pharmacotherapies for this devastating condition.
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