The Retina Reference

Retinitis Pigmentosa - RPE65 mutation

This is a multimedia montage of images from a 38-year-old male patient with retinitis pigmentosa. The patient tested positive for a homozygous mutation of the RPE65 gene. This particular mutation is associated with autosomal recessive Leber congenital amaurosis (LCA) and retinitis pigmentosa (RP). The RPE65 gene codes for a protein produced by the retinal pigment epithelium (RPE) that converts activated photosensitive pigment back into its inactivated state. Without the protein, the photosensitive pigments remain active, and the visual cycle is halted. Recently voretigine has been FDA approved for the treatment of homozygous RPE65 mutation based LCA, but this patient has too advanced disease to qualify. There must be some viable macular photoreceptors in order for the regimen to work. His OCT shows absent ellipsoid zone through the fovea documenting loss of the photoreceptor layer (red arrows). The ellipsoid zone is the junction between the inner and outer photoreceptor layers. The patient has visual acuity of light perception in both eyes. The yellow arrows highlight the characteristic bone spicules and the teal arrows indicate the thin arteries typical of such cases.