Usher syndrome (USH) is the most common cause of deaf–blindness in humans, with a
prevalence of about 1/10,000 (~ 400,000 people worldwide). Cochlear implants are …

Cilia are hair-like projections found on almost all cells in the human body. Originally
believed to function merely in motility, the function of solitary non-motile (primary) cilia was …

Inherited retinal disease is a common cause of visual impairment and represents a highly
heterogeneous group of conditions. Here, we present findings from a cohort of 722 …

Purpose In a large cohort of molecularly characterized inherited retinal disease (IRD)
families, we investigated proportions with disease attributable to causative variants in each …

Inherited retinal diseases (IRDs), defined by dysfunction or progressive loss of
photoreceptors, are disorders characterized by elevated heterogeneity, both at the clinical …

There are currently no treatments for geographic atrophy, the advanced form of age-related
macular degeneration. Hence, innovative studies are needed to model this condition and …

Inherited retinal degenerations (IRDs) are a group of phenotypically and genotypically
heterogeneous disorders with substantial socioeconomic impact. In this cohort study, we …

Purpose Proper interpretation of genomic variants is critical to successful medical decision
making based on genetic testing results. A fundamental prerequisite to accurate variant …

Inherited retinal diseases (IRDs) represent a collection of phenotypically and genetically
diverse conditions. IRDs phenotype (s) can be isolated to the eye or can involve multiple …

Mutations in the photoreceptor-specific C2orf71 gene (also known as photoreceptor cilium
actin regulator protein PCARE) cause autosomal recessive retinitis pigmentosa type 54 and …