Peer-reviewed veterinary case report
Genetic mutation causes Stargardt eye disease in Labrador retrievers
By Suvi Mäkeläinen et al.·Published in PLoS Genetics·2019·View original on DOAJ →
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Original publication title: An ABCA4 loss-of-function mutation causes a canine form of Stargardt disease.
- Species:
- dog
Plain-English summary
A group of Labrador retriever dogs showed signs of vision problems due to a genetic mutation linked to a condition similar to Stargardt disease, which causes blindness. Researchers found a specific mutation in the ABCA4 gene that prevents the production of a crucial protein needed for healthy vision. Affected dogs had no full-length ABCA4 protein in their retinas, leading to retinal degeneration. While there is currently no treatment for this condition, understanding this genetic issue could help develop future therapies for both dogs and humans with similar eye problems.
People also search for: Labrador retriever vision problems · dog Stargardt disease · genetic eye disease in dogs · treatment for dog blindness · ABCA4 mutation in dogs
Abstract
Autosomal recessive retinal degenerative diseases cause visual impairment and blindness in both humans and dogs. Currently, no standard treatment is available, but pioneering gene therapy-based canine models have been instrumental for clinical trials in humans. To study a novel form of retinal degeneration in Labrador retriever dogs with clinical signs indicating cone and rod degeneration, we used whole-genome sequencing of an affected sib-pair and their unaffected parents. A frameshift insertion in the ATP binding cassette subfamily A member 4 (ABCA4) gene (c.4176insC), leading to a premature stop codon in exon 28 (p.F1393Lfs*1395), was identified. In contrast to unaffected dogs, no full-length ABCA4 protein was detected in the retina of an affected dog. The ABCA4 gene encodes a membrane transporter protein localized in the outer segments of rod and cone photoreceptors. In humans, the ABCA4 gene is associated with Stargardt disease (STGD), an autosomal recessive retinal degeneration leading to central visual impairment. A hallmark of STGD is the accumulation of lipofuscin deposits in the retinal pigment epithelium (RPE). The discovery of a canine homozygous ABCA4 loss-of-function mutation may advance the development of dog as a large animal model for human STGD.
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Search related cases →Original publication on DOAJ: https://doi.org/10.1371/journal.pgen.1007873