Biallelic variants in ABCA4 cause Stargardt disease (STGD1), the most frequent heritable
macular disease. Determination of the pathogenicity of variants in ABCA4 proves to be …

Biallelic variants in ABCA4 cause Stargardt disease (STGD1), the most frequent heritable
macular disease. Determination of the pathogenicity of variants in ABCA4 proves to be …

Importance ABCA4-associated retinopathy is a common inherited retinal disease, and its
phenotype spans from late-onset macular dystrophy to extensive cone-rod degeneration …

Missense variants in ABCA4 constitute~ 50% of causal variants in Stargardt disease
(STGD1). Their pathogenicity is attributed to their direct effect on protein function, whilst their …

Introduction ABCA4-associated Stargardt disease (STGD1) leads to bilateral central vision
loss and is responsible for 12% of inherited retinal disease-related blindness. The lack of …

PURPOSE To systematically assess the ability to detect change and retest reliability for a
panel of visual function assessments in ABCA4 retinopathy. DESIGN Prospective natural …

Inherited macular dystrophies (iMDs) are a group of genetic disorders, which affect the
central region of the retina. To investigate the genetic basis of iMDs, we used single …

Long-term natural history studies are important in rare disease research. This study aimed to
assess electrophysiological and fundus autofluorescence (FAF) progression rate in 18 …

Monogenic diseases, or single-gene disorders, are clinical manifestations that can be traced
to genetic variation in a single gene that alters the biologically intended (wildtype) function of …

Stargardt disease (STGD1) is an inherited retinopathy affecting approximately 1: 8000
individuals. It is characterised by biallelic mutations in ABCA4 and encodes a vital protein for …