Available Evidence on Leber Congenital Amaurosis and Gene Therapy.
Leber congenital amaurosis (LCA) is a group of severe inherited retinal dystrophies that lead to early childhood blindness. In the last decade, interest in LCA has increased as advances in genetics have been applied to better identify, classify, and treat LCA. To date, 23 LCA genes have been identified. Gene replacement in the RPE65 form of LCA represents a major advance in treatment, although limitations have been recognized. In this article, we review the clinical and genetic features of LCA and evaluate the evidence available for gene therapy in RPE65 disease.
a Boston Children's Hospital, Harvard Medical School , Boston , MA , USA.|b Department of Ophthalmology , King Saud University , Riyadh , Saudi Arabia.
Maan
M
Alkharashi
b Department of Ophthalmology , King Saud University , Riyadh , Saudi Arabia.
Anne B
AB
Fulton
D019317:Evidence-Based Medicine; D015316:Genetic Therapy; D006801:Humans; D057130:Leber Congenital Amaurosis / Q000235:genetics / Q000628:therapy*; D019745:cis-trans-Isomerases / Q000235:genetics; D000099178:Retinoid Isomerohydrolase
D019745:cis-trans-Isomerases; D000099178:Retinoid Isomerohydrolase
Amaurosis; LCA; Leber; blindness; childhood; congenital; gene therapy; retinal dystrophy