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RPE65

—Retinoid Isomerohydrolase RPE65

Chromosome: 1

Location: 1:68428822-68451103

OMIM: 180069

Ensembl: ENSG00000116745

Official·OMIM:180069 Official·ENSG00000116745

Encodes a retinoid cycle enzyme in RPE. Mutations cause Leber congenital amaurosis type 2.

Treatment Roadmap — RPE65

FDA Approved

Preclinical

Phase 1

4 trial

Phase 2

Phase 3

3 trial

Approved

Luxturna (voretigene neparvovec) — FDA (12/19/2017)

Clinical trials have approximately 10% success rate. This roadmap shows the current status, not guaranteed outcomes.

Associated Diseases

Leber Congenital Amaurosis

Autosomal RecessivePrevalence: ~100Kophthalmologic

Official·OMIM:204000 Official·ORPHA65

Summary

Clinical Trial

Approved Therapy

Registered Variant

RPE65

Treatment Roadmap — RPE65

Associated Diseases

Summary

Approved Therapies