Here, we report 16 non-syndromic IRD patients and two cases with an IRD and some JBTS clinical features with pathogenic variants in INPP5E.

Our goal is to identify the onset of degeneration and devise gene-based therapies to ameliorate or cure the retina disease.

Findings suggest that a small portion of RP may be caused by mutations in genes responsible for other forms of retinal dystrophy.