Expression of ABCA4 in the retinal pigment epithelium and its implications for Stargardt macular degeneration
Open accessAbstract
Significance: Recessive Stargardt macular degeneration (STGD1) and a subset of cone–rod dystrophies are caused by mutations in the Abca4 gene. The ABCA4 protein is a flippase in photoreceptor cells that helps eliminate retinaldehyde, a toxic photoproduct of vision. Here we found that ABCA4 is additionally present in the retinal pigment epithelium (RPE) of mice at approximately 1% of its abundance in the neural retina. Genetically modified mice that express ABCA4 in RPE but not in photoreceptor cells showed partial rescue of both the lipofuscin accumulation and photoreceptor degeneration observed in Abca4 −/− mice and in STGD1 patients. These observations suggest that ABCA4 in the RPE prevents photoreceptor degeneration in Abca4 −/− mice and possibly in STGD1 patients.
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In the membranes of outer photoreceptor segments, nonenzymatically formed toxic bisretinoids are converted upon phagocytosis in the acidic environment of RPE phagolysosomes to bisretinoid pyridinium compound A2E and related bisretinoids.
“In the membranes of outer photoreceptor segments are nonenzymatically formed toxic bisretinoids. Upon phagocytosis, these bisretinoids are in the acidic environment of RPE phagolysosomes converted to bisretinoid pyridinium compound A2E and related bisretinoids [54,69,70,71,72,73,74].”
From The Role of Vitamin A in Retinal Diseases (2022) · cites this paper as [70]
The paper’s introductory passage (page not provided) describes an accepted model in which bisretinoid precursors form in photoreceptor outer segments and, after phagocytosis, are thought to convert to A2E in acidic RPE phagolysosomes. The claim presents that proposed pathway as established; the Discussion also suggests that bisretinoids formed within RPE endolysosomes may contribute more to lipofuscin buildup than those formed in outer-segment discs. The passage does not specify conversion to other related bisretinoids. (LLM, conf=0.86)
Experimental — accuracy not yet measuredABCA4 is also present at extremely low levels in the retinal pigment epithelium, where it has been proposed to enhance endolysosomal function.
“ABCA4 is also present at extremely low levels in the retinal pigment epithelium (RPE) where it has been proposed to enhance endolysosomal function (2, 3).”
From Retinal gene therapy for Stargardt disease with dual AAV intein vectors is both safe and effective in large animal models (2025) · cites this paper as [3]
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- Authors
- Lenis, T. L., Hu, J., Ng, S. Y., Jiang, Z., Sarfare, S., Lloyd, M. B., Esposito, N. J., Samuel, W., Jaworski, C., Bok, D., Finnemann, S. C., Radeke, M. J., Redmond, T. M., Travis, G. H., & Radu, R. A.
- Affiliations
- University of California, Los Angeles (US)
- Fordham University (US)
- National Institutes of Health (US)
- University of California, Santa Barbara (US)
- Corresponding author
- Radu, Roxana A.
- ORCID
- Venue
- Proceedings of the National Academy of Sciences
- Publisher
- National Academy of Sciences
- Published
- 2018-11-05
- Volume
- 115
- Issue
- 47
- Pages
- E11120-E11127
- ISSN
- 0027-8424 (ISSN-L)
- 1091-6490
- PMC
- PMC6255167
- OpenAlex
- W2900433461
- Cited by
- 158
- References
- 38
- Citations by year
- 2026: 14 · 2025: 14 · 2024: 27 · 2023: 23 · 2022: 25 · 2021: 20 · 2020: 22 · 2019: 13
- FWCI
- 4.98
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- Locations
- Proceedings of the National Academy of Sciences (publishedVersion, cc-by-nc-nd)
- Europe PMC (PubMed Central) (publishedVersion, cc-by-nc-nd)
- PubMed Central (publishedVersion, cc-by-nc-nd)
- PubMed (publishedVersion)
- eScholarship (California Digital Library) (submittedVersion)
- eScholarship (California Digital Library) (submittedVersion, cc-by-nc-nd)
- Funders
- HHS | NIH | National Eye Institute (R01 EY025002, R01 EY011713, R01 EY026215, EY000331)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Retinal Development and Disorders
- Health Sciences › Medicine › Ophthalmology › Retinal Diseases and Treatments
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Retinoids in leukemia and cellular processes
- Keywords
- ABCA4, retinal pigment epithelium, cone-rod dystrophy, lipofuscin accumulation, photoreceptor degeneration, retinal, flippase, gene rescue
- MeSH terms
- c-Mer Tyrosine Kinase, Stargardt Disease, Animals, Cells, Cultured, Disease Models, Animal, Lipofuscin, Lysosomes, Macular Degeneration, Mice, Inbred BALB C, Phagocytosis, Photoreceptor Cells, Retina, Retinal Degeneration, Retinaldehyde, Rhodopsin, Mice, Knockout, ATP-Binding Cassette Transporters, Mice, Retinal Pigment Epithelium
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Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
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