RPE65

While not life threatening, blindness and retinal disease are profoundly debilitating and greatly affect quality of life.  Understandably, gene therapy has been subject to controversy given it’s potential effects on the rest of our cellular processes.  However, a genetically diseased eye being an isolated organ quickly becomes a promising prospect for such therapies.  Specifically, RPE antibodies are powerful diagnostic tools to test the viability of these clinical treatments. 

Retinal pigment epithelium-specific 65 kDa protein (RPE65) is an essential vision protein, and so mutations in the RPE65 gene cause blindness. However, clinical trials using gene therapy to treat patients with a defective RPE65 gene suggest that some vision may be restored.