Nature

Three different ABCA4 mutations in the same large family with several consanguineous loops affected with autosomal recessive cone–rod dystrophy

Within the huge family of inherited retinal dystrophies, the CRD phenotype indicates a specific form of retinal degeneration in which the cone degeneration appears early in life with a central ...
News Medical

Discovery points to a new understanding of Stargardt disease progression

Using a new stem-cell-based model made from skin cells, scientists found the first direct evidence that Stargardt-related ABCA4 gene mutations affect a layer of cells in the eye called the retinal ...
Science Daily

Researchers home in on a new cause of Stargardt disease

Using a new stem-cell based model made from skin cells, scientists found the first direct evidence that Stargardt-related ABCA4 gene mutations affect a layer of cells in the eye called the retinal ...
BioWorld

ACDN-01 results in robust, durable and well-tolerated ABCA4 exon editing in preclinical models

Ascidian Therapeutics Inc. recently provided preclinical data for ACDN-01, an AAV-encoded RNA exon editor targeting ABCA4, being developed for the treatment of ABCA4-related retinopathies, including ...