RPE65
Retinal pigment epithelium isomerase; essential for the visual cycle (converts all-trans-retinyl ester to 11-cis-retinol)
FDA Approved Therapy Available
Luxturna (voretigene neparvovec) — FDA approved Dec 2017, EMA approved 2018, ~$425,000 per eye. Next-generation RPE65 gene therapies are now in trials, including HuidaGene's HG004 (STAR, Phase 1/2, NCT05906953), a China-developed AAV evaluated in a multinational study.
Sourced & cited — not yet expert-reviewed
Every statement here is backed by a cited primary source, but a specialist has not formally reviewed this page yet.
1p31.2
Autosomal Recessive
5-10% of LCA cases
Key Clinical Features
- 1Profound night blindness from birth
- 2Residual cone-mediated vision in first 3 decades
- 3Blond fundus with peripheral white deposits
- 4FDA-approved gene therapy (Luxturna) available
Clinical Trials
Luxturna Phase 3 Pivotal Trial
Spark Therapeutics · Phase 3
RPE65 Gene Therapy Phase 1
Spark / CHOP · Phase 1
RPE65 Gene Therapy (UCL/Moorfields, UK)
UCL / Moorfields Eye Hospital · Phase 1
Luxturna Post-Marketing Patient Registry (US)
Spark / Novartis · Post-marketing
HG004 for RPE65-Associated LCA (STAR)
HuidaGene Therapeutics · Phase 1/2