This form of retinitis pigmentosa is caused by mutations in the RPE65 gene, which is involved in vitamin A metabolism in the retina. RPE65 retinitis pigmentosa can be autosomal dominant or autosomal recessive. Mutations in the RPE65 gene are fairly rare, with an estimated prevalence of 1/50,000-100,000. Leber congenital amaurosis (LCA) is an eye disorder that's primarily caused by mutations in the RPE65 gene and associated with early-onset blindness. Recently, the mutation D477G in RPE65 has been identified as a cause of autosomal dominant RP.

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Symptoms typically include tunnel vision, difficulty seeing colors, especially blue, vision loss, partial or complete, clumsiness due to poor vision, night blindness, difficulty adjusting to light, and difficulty seeing in bad weather.

This form of RP is one of the few to have a FDA approved treatment call Luxturna®. This gene therapy can restore sight by delivering a normal copy of the RPE65 gene. The revolutionary gene therapy treatment gives patients a normal copy of the gene RPE65 with a surgical injection behind the retina.

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This is for informational purposes only. For medical advice or diagnosis, consult a professional.

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