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

The current study focused on the cilia-specific role for ARL2BP in photoreceptor cells.

Results extended the mutation spectrum of known RP genes in Han Chinese, making a contribution to RP gene diagnosis and the pathogenetic . .

Targeted next-generation sequencing (NGS) has been demonstrated to be an effective strategy for the detection of mutations in RP.

To identify the cause of retinitis pigmentosa (RP) in UTAD003, a large, six-generation Louisiana family with autosomal dominant RP.