This patient let me know that she could not drive at night. My dilated eye examination showed evidence of Retinitis pigmentosa (RP). In RP, there is progressive degeneration in the photoreceptor cells (rods and cones) of the retina. Other forms of RP and related diseases include Usher syndrome, Leber’s congenital amaurosis, rod-cone disease, Bardet-Biedl syndrome, and Refsum disease.
The prognosis is poor since there is no cure for the disease. However, there is significant research being done, including gene therapy. As we acquire more knowledge about influencing gene function, treatment for hereditary diseases, including RP, will become available. If as few as 5% of cones can be kept alive, a person with RP can continue to function independently.