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 …

Major advances in the study of inherited retinal diseases (IRDs) have placed efforts to
develop treatments for these blinding conditions at the forefront of the emerging field of …

The ABCA4 gene is the most frequently mutated Mendelian retinopathy-associated gene.
Biallelic variants lead to a variety of phenotypes, however, for thousands of cases the …

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 …

Background A common approach for sequencing studies is to do joint-calling and store
variants of all samples in a single file. If new samples are continually added or controls are …

Mutations in PRPH2, encoding peripherin‐2, are associated with the development of a wide
variety of inherited retinal diseases (IRDs). To determine the causality of the many PRPH2 …

Purpose: To assess the potential of next-generation sequencing (NGS) technologies to
characterize cases diagnosed with autosomal recessive (ar) or sporadic (s) macular …

Erbliche Netzhauterkrankungen sind eine häufige Ursache für eine schwere
Sehbehinderung oder Erblindung bei Kindern und Erwachsenen im erwerbsfähigen Alter …