BRIEF DESCRIPTION
C8ORF37 retinitis pigmentosa (RP) is a rare, inherited eye disease caused by mutations in the C8ORF37 gene. It's a type of autosomal recessive retinal dystrophy, which means it's passed down through generations in pairs of chromosomes. Mutations in C8orf37 can also cause cone-rod dystrophy (CRD) and Bardet–Biedl syndrome (BBS).
Symptoms include early loss of night vision - usually in childhood, loss of peripheral vision - making it difficult to see things in the corners of your eyes, and early and severe involvement of the macula, leading to early central vision loss. At this time, there are no standard treatments for RP, but therapies being investigated by researchers include: vitamin A supplements, gene therapy, stem cell therapy, neuroprotective approaches, retinal implants, and refraction and glasses to improve central visual acuity.
This is for informational purposes only. For medical advice or diagnosis, consult a professional.