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 …

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 …

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 …

Hereditary disorders are frequently caused by genetic variants that affect pre‐messenger
RNA splicing. Though genetic variants in the canonical splice motifs are almost always …

Background Variants that disrupt mRNA splicing account for a sizable fraction of the
pathogenic burden in many genetic disorders, but identifying splice-disruptive variants …

Recurrence risk calculations in autosomal recessive diseases are complicated when the
effect of genetic variants and their population frequencies and penetrances are unknown. An …

Stargardt disease (STGD1) and ABCA4 retinopathies (ABCA4R) are caused by pathogenic
variants in the ABCA4 gene inherited in an autosomal recessive manner. The gene encodes …

Massive parallel sequencing technology has become the predominant technique for genetic
diagnostics and research. Many genetic laboratories have wrestled with the challenges of …

Inherited retinal diseases (IRDs) are a major cause of visual impairment. These clinically
heterogeneous disorders are caused by pathogenic variants in more than 270 genes. As 30 …

Over 1200 variants in the ABCA4 gene cause a wide variety of retinal disease phenotypes,
the best known of which is autosomal recessive Stargardt disease (STGD1). Disease …