ArticlePLoS genetics2019
An ABCA4 loss-of-function mutation causes a canine form of Stargardt disease.
Article in PLoS genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
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Who cites it
27 citing papers in PubMed, 41 citations in OpenAlex.
- Loss of ABCA4 from photoreceptor discs is associated with glial transcriptomic changes in retinal organoids.Stem cells (Dayton, Ohio) · 2026Article
- Genotype frequency of Stargardt disease in Labrador Retrievers in Japan.The Journal of veterinary medical science · 2026Article
- Retrospective evaluation of the prevalence of known and presumed hereditary eye diseases in a population of Labradoodles referred for ophthalmic screening examinations in the Netherlands.Frontiers in veterinary science · 2026Article
- Characterization of the Subclinical Perilesional Zone in the Macula of Early-Stage ABCA4 Disease.Translational vision science & technology · 2025Article
- ABCA4-mutant human retinal organoids sequencing reveals organoids application in inherited retinal diseases.Experimental eye research · 2025Article
- Loss of retinal stem cell reserve and lipofuscin accumulation accelerates cone-rod degeneration and replicates Stargardt disease in abca4b null zebrafish.Scientific reports · 2025Article
- Gene therapy advances using canine and feline animal models of inherited retinal degeneration.Eye (London, England) · 2025Review
- Animal models for the evaluation of retinal stem cell therapies.Progress in retinal and eye research · 2025Review
- Retinal gene therapy for Stargardt disease with dual AAV intein vectors is both safe and effective in large animal models.Science advances · 2025Article
- Abca4, mutated in Stargardt disease, is required for structural integrity of cone outer segments.Disease models & mechanisms · 2025Article
- Whole exome sequencing as a screening tool in dogs: A pilot study.Computational and structural biotechnology journal · 2025Article
- Proposing Zebrafish as a Model for Stargardt Disease.Advances in experimental medicine and biology · 2025Review
- Differential gene expression between central and peripheral retinal regions in dogs and comparison with humans.Experimental eye research · 2024Article
- An Automated Visual Psychophysics Method to Measure Visual Function in Swine Preclinical Animal Model.Translational vision science & technology · 2024Article
- Canine and Feline Models of Inherited Retinal Diseases.Cold Spring Harbor perspectives in medicine · 2024Review
- Functional characterization of ABCA4 genetic variants related to Stargardt disease.Scientific reports · 2022Article
- Abnormal Appearance of the Area Centralis in Labrador Retrievers With an ABCA4 Loss-of-function Mutation.Translational vision science & technology · 2022Article
- Clinical Observation and Genotype-Phenotype Analysis of ABCA4- Related Hereditary Retinal Degeneration before Gene Therapy.Current gene therapy · 2022Article
- Identification of Four Novel Variants and Determination of Genotype-Phenotype Correlations for ABCA4 Variants Associated With Inherited Retinal Degenerations.Frontiers in cell and developmental biology · 2021Article
- Functional Characterization of ABCA4 Missense Variants Linked to Stargardt Macular Degeneration.International journal of molecular sciences · 2020Article
Corrections and comments
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Authors and funding
14 authors at 6 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
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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