This mutation manifested with advanced retinal degeneration at a young age. This may have implications regarding future gene therapy in Usher syndrome cases with this genotype.

A 44-year-old Saudi female presented with poor right eye vision for 3 years. Visual acuity (VA) was 20/400 in the right eye and 20/20 in the left eye. Examination and imaging showed all the typical features of retinitis pigmentosa in the right eye associated with full thickness macular hole (FTMH) and an essentially normal left eye. The case underwent pars plana vitrectomy with internal limiting membrane peeling and gas tamponade that resulted in anatomical closure of the FTMH, but VA remained the same.