Nicholas Katsanis and colleagues report that a common allele of RPGRIP1L is associated with photoreceptor loss in ciliopathies. An A229T variant in RPGRIP1L compromises binding to RPGR and modifies the retinal degeneration phenotype in ciliopathies caused by mutations in other genes.
- Hemant Khanna
- Erica E Davis
- Nicholas Katsanis
