Disorders

Bietti Crystalline Dystrophy

Synonym(s): Bietti Crystalline Corneoretinal Dystrophy, Bietti Crystalline Retinopathy

Gene	Locus	Protein
CYP4V2	4q35.2	Cytochrome P450 4V2

Laboratory	Test Method	Prenatal	Carrier *
National Institutes of Health, Ocular Genetics Laboratory - Bethesda, MD, USA
Oregon Health and Science University, Casey Eye Institute Molecular Diagnostic Laboratory - Portland, OR, USA
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands

^* Carrier column is relevant to autosomal recessive and X-linked inheritance; column will be blank when it is not relevant (e.g. autosomal dominant inheritance, microdeletions/duplications) and/or is not offered by the lab.