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 …

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 …

Background The majority of clinical genetic testing focuses almost exclusively on regions of
the genome that directly encode proteins. The important role of variants in non-coding …

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 …

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 …

We aimed to unravel the molecular genetic basis of inherited retinal degeneration (IRD) in a
comprehensive cohort of patients diagnosed in the largest center for IRD in Germany. A …

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 type 1 (STGD1) is the most common hereditary form of maculopathy and
remains untreatable. STGD1 is caused by biallelic variants in the ABCA4 gene, which …