Background: Mutations in the RPGR gene are associated with rod-cone or cone-rod dystrophy, latter mutations at distal end. Cone-rod dystrophy (CRD) is a subgroup of hereditary retinal disorders characterized by primary degeneration cone photoreceptors often followed progressive loss rod peripheral visual field. Purpose: The aim this study was to describe milder CRD phenotype novel pathogenic va...

Inherited retinal diseases are a leading cause of blindness in working age adults many countries. X-linked retinitis pigmentosa (RP) accounts for significant proportion, with the majority associated pathogenic variants RPGR gene.1De Silva SR, Arno G, Robson AG, Fakin A, Pontikos N, Mohamed MD, Bird AC, Moore AT, Michaelides M, Webster AR, Mahroo OA. The retinopathies: Physiological insights, me...

PURPOSE Proximal Xp harbors many inherited retinal disorders, including retinitis pigmentosa (RP) and congenital stationary night blindness, both of which display genetic heterogeneity. X-linked congenital stationary night blindness (CSNBX) is a nonprogressive disease causing night blindness and reduced visual acuity. Distinct genetic loci have been reported for CSNBX at Xp21.1, which is potent...

PURPOSE Retinitis pigmentosa (RP) is caused by mutations in a variety of genes, most of which have known functions in the retina. However, one of the most perplexing findings of recent retinal genetics research was the discovery of mutations causing dominant RP in four ubiquitously expressed splicing factors. The aim of this study was to use lymphoblast cell lines derived from RP patients to de...

Inherited Retinal Dystrophies (IRDs) are a group of rare diseases with prevalence 1:3000-4000 people. They genetic, primarily affecting retinal photoreceptors and epithelial pigmentary cells, lead to neurodegeneration finally apoptosis. In 2021, we published our global results obtained in registry at the Fundación Jiménez Díaz University Hospital (Madrid, Spain) from 1991 August 2019. Now, aime...