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 …

Purpose Using exome sequencing, the underlying variants in many persons with autosomal
recessive diseases remain undetected. We explored autosomal recessive Stargardt disease …

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 …

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 …

Background: Gene therapy cannot be yet considered a far perspective, but a tangible
therapeutic option in the field of retinal diseases. Although still confined in experimental …

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 …

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, one of the most common forms of inherited retinal diseases, affects
individuals worldwide. The primary cause is mutations in the ABCA4 gene, leading to the …