Gene therapy on inherited retinal dystrophies: an update.

Abstract

[EN] Inherited retinal dystrophies (IRDs) are a heterogeneous group of disorders characterized by mutations in one of more than 290 identified genes and loci (https://sph.uth.edu/retnet/disease.htm), resulting in the dysfunction or death of photoreceptors and the alteration of the retinal pigment epithelium (RPE), the choroid or the visual cycle pathways, ultimately leading to visual loss. IRDs may appear as syndromic traits, or be presented in a non-syndromic manner and it is estimated that 1 in 2300 individuals is affected by an IRD.3 Remarkably, a recent study by Irigoyen found that Retinitis Pigmentosa (a particular form of IRD) affects 1 in 4244 people in Gipuzkoa.