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

Retinitis pigmentosa is a heterogeneous genetic disorder with progressive degeneration of the retina leading to a progressive visual loss.

The aim of this study was to identify the probable genetic cause of retinitis pigmentosa in 4 unrelated patients.

Whole exome sequencing was used to investigate the mutations.

We found different variants in RP1L1, AIPL1, EYS and CRB1 genes including three novel and two previously reported mutations.

Since the disease has clinical and genetic heterogeneity, whole exome sequencing is the recommended method to find the disease causing mutations.