ARHGEF18

Disease Category: autosomal recessive

Patient Population: <5

Known Clinical Trials: None known

Treatment Options: None known

Strategies to Preserve Eye Health: None known

Institution(s) Conducting Research: None known

A FACE OF RP

Looking

tbd

EYS is a major gene involved in retinitis pigmentosa in Japan: genetic landscapes revealed by stepwi

Considering that EYS is the major causative gene of RP in Japan, researchers conducted stepwise genetic screening of 220 Japanese patients.

Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration

Mutations in more than 250 genes are implicated in inherited retinal dystrophy; the encoded proteins are involved in a broad spectrum