Novel mutations in patients with retinitis pigmentosa detected by Whole Exome Sequencing

Background Retinitis pigmentosa is a heterogeneous genetic disorder with progressive degeneration of the retina leading to a progressive visual loss. Objectives The aim of this study was to identify the probable genetic cause of retinitis pigmentosa in ۴ unrelated patients. Methods Whole exome sequencing was used to investigate the mutations. Results We found different variants in RP۱L۱, AIPL۱, EYS and CRB۱ genes including three novel and two previously reported mutations. Conclusions Since the disease has clinical and genetic heterogeneity, whole exome sequencing is the recommended method to find the disease causing mutations.

کلیدواژه ها:

Retinitis pigmentosa ، Whole exome sequencing ، Vision