The aim of this review article is to give an overview of the current status of genotyping in ABCA4, an update on missing heritability

By: Glenn Yiu, MD, PhD - Department of Ophthalmology & Vision Science, University of California, Davis, Sacramento, California Ophthalmology

CERKL mutations are an uncommon cause of arRP, but they are a significant cause of disease in populations with founder mutations

Johannes Birtel , Tobias Eisenberger , Martin Gliem , Philipp L. Müller , Philipp Herrmann , Christian Betz , Diana Zahnleiter ,...

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.