ArticleBiochimica et biophysica acta2012
Increased cone sensitivity to ABCA4 deficiency provides insight into macular vision loss in Stargardt's dystrophy.
Article in Biochimica et biophysica acta, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers.
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Who cites it
33 citing papers in PubMed, 52 citations in OpenAlex.
- ABCA4 Versus PRPH2-Associated Retinopathy: Clinical and Electrophysiological Findings.Investigative ophthalmology & visual science · 2026Article
- Gene therapy rescues cone function inMolecular therapy. Advances · 2026Article
- More insights from Abca4The Journal of biological chemistry · 2026Article
- Integrative Landscape of Dry AMD Pathogenesis, Models, and Emerging Therapeutic Strategies.International journal of molecular sciences · 2025Review
- 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
- Bisretinoid lipofuscin, fundus autofluorescence and retinal disease.Progress in retinal and eye research · 2025Review
- Unravelling genotype-phenotype correlations in Stargardt disease using patient-derived retinal organoids.Cell death & disease · 2025Article
- Bisretinoids as a Source of Early Photoreceptor Pathology in Stargardt Disease.Ophthalmic research · 2025Review
- Interruption of the visual cycle in a novel animal model induces progressive vision loss resembling Stargardts Disease.Scientific reports · 2024Article
- Article
- Retinal organoids provide unique insights into molecular signatures of inherited retinal disease throughout retinogenesis.Journal of anatomy · 2023Review
- Electroretinography as a Biomarker to Monitor the Progression of Stargardt Disease.International journal of molecular sciences · 2022Article
- Intrinsic differences in rod and cone membrane composition: implications for cone degeneration.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2022Review
- Monitoring basal autophagy in the retina utilizing CAG-mRFP-EGFP-MAP1LC3B reporter mouse: technical and biological considerations.Autophagy · 2022Article
- Evaluation of Local Rod and Cone Function in Stargardt Disease.Investigative ophthalmology & visual science · 2022Article
- The Role of Vitamin A in Retinal Diseases.International journal of molecular sciences · 2022Review
- A five-year follow-up ofMolecular vision · 2022Article
- In vivo multimodal retinal imaging of disease-related pigmentary changes in retinal pigment epithelium.Scientific reports · 2021Article
- Strategies to gain novel Alzheimer's disease diagnostics and therapeutics using modulators of ABCA transporters.Free neuropathology · 2021Article
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
Abstract
Autosomal recessive Stargardt macular dystrophy is caused by mutations in the photoreceptor disc rim protein ABCA4/ABCR. Key clinical features of Stargardt disease include relatively mild rod defects such as delayed dark adaptation, coupled with severe cone defects reflected in macular atrophy and central vision loss. In spite of this clinical divergence, there has been no biochemical study of the effects of ABCA4 deficiency on cones vs. rods. Here we utilize the cone-dominant Abca4(-/-)/Nrl(-/-) double knockout mouse to study this issue. We show that as early as post-natal day (P) 30, Abca4(-/-)/Nrl(-/-) retinas have significantly fewer rosettes than Abca4(+/+)/Nrl(-/-) retinas, a phenotype often associated with accelerated degeneration. Abca4-deficient mice in both the wild-type and cone-dominant background accumulate more of the toxic bisretinoid A2E than their ABCA4-competent counterparts, but Abca4(-/-)/Nrl(-/-) eyes generate significantly more A2E per mole of 11-cis-retinal (11-cisRAL) than Abca4(-/-) eyes. At P120, Abca4(-/-)/Nrl(-/-) produced 340 ± 121 pmoles A2E/nmol 11-cisRAL while Abca4(-/-) produced 50.4 ± 8.05 pmoles A2E/nmol 11-cisRAL. Nevertheless, the retinal pigment epithelium (RPE) of Abca4(-/-)/Nrl(-/-) eyes exhibits fewer lipofuscin granules than the RPE of Abca4(-/-) eyes; at P120: Abca4(-/-)/Nrl(-/-) exhibit 0.045 ± 0.013 lipofuscingranules/μm² of RPE vs. Abca4(-/-) 0.17 ± 0.030 lipofuscingranules/μm² of RPE. These data indicate that ABCA4-deficient cones simultaneously generate more A2E than rods and are less able to effectively clear it, and suggest that primary cone toxicity may contribute to Stargardt's-associated macular vision loss in addition to cone death secondary to RPE atrophy.
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