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 …

The ABCA4 protein (then called a “rim protein”) was first identified in 1978 in the rims and
incisures of rod photoreceptors. The corresponding gene, ABCA4, was cloned in 1997, and …

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 …

Cone-rod dystrophies (CORDs) are a heterogeneous group of inherited retinopathies (IRDs)
with more than 30 already known disease-causing genes. Uncertain phenotypes and …

Inherited retinal diseases (IRDs) are the leading cause of vision loss in the working-age
population. We performed a retrospective epidemiological study to determine the genetic …

ABCA4 is a member of the superfamily of ATP-binding cassette (ABC) transporters that is
preferentially localized along the rim region of rod and cone photoreceptor outer segment …

Purpose Genome sequencing (GS) is expected to reduce the diagnostic gap in rare disease
genetics. We aimed to evaluate a scalable framework for genome-based analyses 'beyond …

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

Inherited retinal diseases (IRDs) are a group of heterogeneous conditions that cause
progressive vision loss, typically due to monogenic mutations. Female carriers of X-linked …