Mäkeläinen et al. PLoS Genet. 15, e1007873 (2019)

Approximately 1 in 8,000–10,000 people are affected by Stargardt disease (STGD), an autosomal recessive retinal degenerative disease leading to visual impairment. STGD is caused by mutations in the ABCA4 gene, which encodes a membrane transporter protein expressed by photoreceptors. No treatment exists and only mouse models are available to study the disease. For over a decade, researchers have been trying to identify a canine model because unlike mice, dogs have a macula, the part of the retina primarily affected in patients with STGD.

Recently, whole-genome sequencing performed on a family quartet of dogs—two offspring showing clinical signs similar to human STGD and their unaffected parents—led to the identification of a loss-of-function mutation in the ABCA4 gene, which could be used to develop a large animal model for human STGD.