CYP4V2

Disease Category: autosomal recessive

Patient Population: 12+

Known Clinical Trials: None known

Check clinicaltrials.gov for updates

Treatment Options: None known

Strategies to Preserve Eye Health:

Institution(s) Conducting Research:

A FACE OF RP

tbd

BRIEF DESCRIPTION

This compound heterozygous variant was found to be absent from other unaffected family members and 400 ethnically-matched healthy control individuals. In addition, this compound variant was co-segregated with the RP phenotype in an autosomal recessive manner. In silico analysis revealed that both c.C958T (p.R320X) and c.G1355A (p.R452H) could compromise the protein function of CYP4V2. These results strongly suggest this compound variant to be a disease-causing variant, which expands upon the spectrum of currently known CYP4V2 genetic variants associated with retinal diseases. (Source https://pmc.ncbi.nlm.nih.gov/articles/PMC8972287/)

This is for informational purposes only. For medical advice or diagnosis, consult a professional.

IN THE NEWS

Apr 23, 2024

Gene replacement therapy in Bietti crystalline corneoretinal dystrophy: an open-label, single-arm, exploratory trial

Here, we report results of the first-in-human clinical trial (NCT04722107) of gene therapy for Bietti crystalline corneoretinal dystrophy

Mar 13, 2022

Identification of a novel compound heterozygous <em>CYP4V2</em> variant in a patient with autosomal recessive retinitis pigmentosa

Aim of present study: screen for possible disease‑causing genetic variants in a non‑consanguineous Chinese family with non‑syndromic arRP.

May 30, 2012

Exome Sequencing Identifies Compound Heterozygous Mutations in CYP4V2 in a Pedigree with Retinitis Pigmentosa

22 subjects from a four generation Chinese family with RP, thin cornea, congenital cataract and high myopia is reported in this study