Voretigen neparvovec per al tractament de la distròfia retinal associada a la mutació RPE65 bial·lèlica
Abstract
Hereditary retinal dystrophies (HRD) include a group of minority genetic diseases that affect vision. The main cause of this group of pathologies is germline mutations described in more than 260 genes, including the gene encoding the enzyme RPE65. RPE65 plays a key role in the conversion of light stimuli into an electrical signal. This conversion takes place in the retinal pigment epithelium or RPE (in English, retinal pigment epithelium) and in the photoreceptors (cones and rods). Mutations in the RPE65 gene are associated with severe vision loss during childhood. Deficiency of the RPE65 protein causes a deficiency in rhodopsin function and the death of photoreceptors as a result of the accumulation of toxic compounds. Around 60 different mutations have been identified in the RPE65 gene, which are associated with a heterogeneous group of HRDs that include recessive retinitis pigmentosa, dominant retinitis pigmentosa with choroidal involvement, and Leber congenital amaurosis.
Keywords
Vortigen neparvovec, Retinal dystrophy; Gene therapy
Bibliographic citation
Programa d'Harmonització Farmacoterapèutica. Voretigen neparvovec per al tractament de la distròfia retinal associada a la mutació RPE65 bial·lèlica. Barcelona: Servei Català de la Salut; 2021.
Audience
Professionals
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