Revisión sobre terapia génica aprobada y recuperación visual en la amaurosis congénita de Leber por mutación en el gen RPE65

Marcela Ciccioli; Alejandra Antacle

doi:10.70313/2718.7446.v17.n01.284

Autores/as

Marcela Ciccioli Asociación de Padres de Niños con Enfermedad de Stargardt (Stargardt APNES) y Retina Argentina, Buenos Aires, Argentina. PANIRD Professors (Panamerican Inherited Retinal Diseases Group).
Alejandra Antacle Pontificia Universidad Católica Argentina, Buenos Aires, Argentina. Universidad del Salvador, Buenos Aires, Argentina

DOI:

https://doi.org/10.70313/2718.7446.v17.n01.284

Palabras clave:

amaurosis congénita de Leber, distrofias hereditarias de retina, gen RPE65, terapia génica

Resumen

Las distrofias hereditarias de la retina son un conjunto de condiciones visuales que llevan progresivamente a la baja visión y/o a la ceguera. Se conocen actualmente más de 390 genes diferentes implicados como causa en estas distrofias. La amaurosis congénita de Leber se presenta de forma congénita o antes del primer año de vida y es una de las distrofias de retina de inicio temprano más severas. La amaurosis congénita de Leber y/o retinosis pigmentaria tipo 20 por variantes bialélicas patogénicas en el gen RPE65 es por ahora la única distrofia que tiene tratamiento génico aprobado por diferentes agencias regulatorias internacionales, incluyendo la Argentina desde 2021 (autorizada por la ANMAT). En la actualidad se encuentran en desarrollo protocolos de nuevas terapias génicas para otras anomalías como la enfermedad de Stargardt, el síndrome de Usher tipo IB, la retinosis pigmentaria por mutaciones en el gen RPGR, la coroideremia y muchas más. En el presente trabajo ser revisarán los conceptos actuales de esta enfermedad y su terapia génica.

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