A novel homozygous CYP4V2 variant (p.S121Y) associated with a choroideremia-like phenotype

Ophthalmic Genet. 2017 May-Jun;38(3):286-287. doi: 10.1080/13816810.2016.1193880. Epub 2016 Jun 27.

Authors

Satoshi Katagiri¹, Takaaki Hayashi¹, Tamaki Gekka¹, Hiroshi Tsuneoka¹

Affiliation

¹ a Department of Ophthalmology , The Jikei University School of Medicine , Tokyo , Japan.

PMID: 27348340
DOI: 10.1080/13816810.2016.1193880

No abstract available

Publication types

Case Reports
Letter
Research Support, Non-U.S. Gov't

MeSH terms

Choroideremia / diagnosis
Choroideremia / genetics*
Choroideremia / physiopathology
Cytochrome P450 Family 4 / genetics*
Electroretinography
Genetic Variation*
Homozygote
Humans
Male
Middle Aged
Phenotype
Retina / physiology
Visual Field Tests
Visual Fields / physiology

Substances

CYP4V2 protein, human
Cytochrome P450 Family 4