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 …

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 …

Background: This study examined the frequency of inherited retinal diseases (IRDs) as the
reason for blindness registrations over the last two decades and the demographic and …

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

Purpose Missing heritability in human diseases represents a major challenge, and this is
particularly true for ABCA4-associated Stargardt disease (STGD1). We aimed to elucidate …

Stargardt disease is a progressive retinal disorder caused by bi-allelic mutations in the
ABCA4 gene that encodes the ATP-binding cassette, subfamily A, member 4 transporter …

The discovery of novel intronic variants in the ABCA4 locus has contributed significantly to
solving the missing heritability in Stargardt disease (STGD1). The increasing number of …

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 …

Stargardt disease is an inherited retinal disease caused by biallelic mutations in the ABCA4
gene, many of which affect ABCA4 splicing. In this study, nine antisense oligonucleotides …

Purpose Late-onset Stargardt disease is a subtype of Stargardt disease type 1 (STGD1),
defined by an age of onset of 45 years or older. We describe the disease characteristics …