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 …

Purpose Stargardt disease (STGD1) is caused by biallelic mutations in ABCA4, but many
patients are genetically unsolved due to insensitive mutation‐scanning methods. We aimed …

Transcriptomic analysis of the mammalian retinal pigment epithelium (RPE) aims to identify
cellular networks that influence ocular development, maintenance, function, and disease …

Autosomal recessive Stargardt disease (STGD1) is associated with variants in the ABCA4
gene. The phenotypes range from early-onset STGD1, that clinically resembles severe cone …

Over 1,500 variants in the ABCA4 locus cause phenotypes ranging from severe, early-onset
retinal degeneration to very late-onset maculopathies. The resulting ABCA4/Stargardt …

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 …

Purpose: More than 200 different mutations in peripherin-2 (PRPH2) are associated with
multiple subtypes of inherited retinal diseases (IRDs), including retinitis pigmentosa and …

Glycans play an essential role in biological processes, but our knowledge of their structure
and function is limited as compared to other biological molecules. Glycan structure is highly …

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 …

Transcriptomic analysis of the mammalian retinal pigment epithelium (RPE) aims to identify
cellular networks that influence ocular development, maintenance, function, and disease …