RPE65-Related Retinopathy

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RPE65-Related Retinopathy encompasses a spectrum of inherited retinal dystrophies caused by mutations in the RPE65 gene. This includes Leber congenital amaurosis type 2 (LCA2) and retinitis pigmentosa type 20 (RP20), conditions that cause severe visual impairment beginning in infancy or early childhood. These conditions are notable for being among the first inherited diseases successfully treated with gene therapy.

The RPE65 enzyme is essential for the visual cycle—the biochemical process by which light signals are converted to nerve impulses in the retina. Without functional RPE65, the photoreceptors cannot regenerate the visual pigments needed to detect light, leading to progressive loss of vision. Night blindness is typically the first symptom, followed by progressive loss of peripheral and central vision.

Children with LCA2 often present in infancy with severely reduced vision, nystagmus (involuntary eye movements), and sluggish pupil responses. They may frequently rub or press on their eyes (oculo-digital sign). The retina may initially appear relatively normal but shows progressive degeneration over time. Without treatment, most affected individuals become legally blind in childhood or young adulthood.

RPE65-related retinopathy is inherited in an autosomal recessive pattern. In 2017, Luxturna (voretigene neparvovec) became the first FDA-approved gene therapy for an inherited disease, delivering functional copies of the RPE65 gene directly to retinal cells. Treated patients have shown sustained improvements in vision, particularly in dim light. Genetic diagnosis is essential for identifying candidates for this groundbreaking therapy.

NutraHacker examines the following gene related to RPE65-Related Retinopathy:

For more information about your own genetic profile as related to RPE65-Related Retinopathy, please check out our NutraHacker WGS Critical Genetics Report.

Or to get going without any further delay, upload whole genome sequencing data and find out more about your critical genetics today.