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 …

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 …

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 …

Mutations in USH2A are among the most common causes of syndromic and non-syndromic
retinitis pigmentosa (RP). The two most recurrent mutations in USH2A, c. 2299delG and c …

Purpose ABCA4-associated disease, a recessive retinal dystrophy, is hallmarked by a large
proportion of patients with only one pathogenic ABCA4 variant, suggestive for missing …

Background Variation in the ABCA4 gene is causal for, or associated with, a wide range of
phenotypes from early onset Mendelian retinal dystrophies to late-onset complex disorders …

Stargardt disease is caused by variants in the ABCA4 gene, a significant part of which are
noncanonical splice site (NCSS) variants. In case a gene of interest is not expressed in …

The cause of autosomal-dominant retinitis pigmentosa (adRP), which leads to loss of vision
and blindness, was investigated in families lacking a molecular diagnosis. A refined locus …

Retinal gene therapy with adeno-associated viral (AAV) vectors holds promises for treating
inherited and noninherited diseases of the eye. Although clinical data suggest that retinal …

Sequence analysis of the coding regions and splice site sequences in inherited retinal
diseases is not able to uncover∼ 40% of the causal variants. Whole-genome sequencing …