Inherited retinal diseases (IRDs) are a clinically complex and heterogenous group of visual
impairment phenotypes caused by pathogenic variants in at least 277 nuclear and …

PURPOSE Accurate genotyping of individuals with inherited retinal diseases (IRD) is
essential for patient management and identifying suitable candidates for gene therapies …

Inherited retinal degenerations (IRDs) represent a diverse group of progressive, visually
debilitating diseases that can lead to blindness in which mutations in genes that are critical …

Macular and cone/cone-rod dystrophies (MD/CCRD) demonstrate a broad genetic and
phenotypic heterogeneity, with retinal alterations solely or predominantly involving the …

Purpose: Inherited retinal dystrophy (IRD) is a leading cause of blindness worldwide.
Because of extreme genetic heterogeneity, the etiology and genotypic spectrum of IRD have …

Retinitis pigmentosa (RP) is a devastating form of retinal degeneration, with significant
social and professional consequences. Molecular genetic information is invaluable for an …

The cellular mechanisms underlying hereditary photoreceptor degeneration are still poorly
understood, a problem that is exacerbated by the enormous genetic heterogeneity of this …

Purpose Current sequencing strategies can genetically solve 55–60% of inherited retinal
degeneration (IRD) cases, despite recent progress in sequencing. This can partially be …

Retinitis pigmentosa is the most common form of hereditary retinal degeneration causing
blindness. Great progress has been made in the identification of the causative genes. Gene …

Retinitis pigmentosa (RP) is an inherited degenerative disease causing severe retinal
dystrophy and visual impairment mainly with onset in infancy or adolescence. Targeted next …