Increased cone sensitivity to ABCA4 deficiency provides insight into macular vision loss in Stargardt's dystrophy
Open accessAbstract
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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In STGD1, cone degeneration is more severe and occurs before rod degeneration.
“In STGD1, cone degeneration is more severe and occurs before rod degeneration [69,94].”
From The Role of Vitamin A in Retinal Diseases (2022) · cites this paper as [94]
The Introduction describes severe cone-dominant vision loss relative to a minor rod defect. The Discussion reports signs suggesting a slightly earlier onset of cone degeneration than rod degeneration in ABCA4-deficient mice, but calls the effects mild and notes that the disease time course differs between mice and humans. It does not establish that cone degeneration is more severe and occurs first in people with STGD1. (LLM, conf=0.87)
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Pidishetty, D., Damera, S. K., Murugavel, M., Susaimanickam, P. J., Chittajallu, S. N. S. H., Kushawah, G., Sarkar, P., Bharadwaj, S. R., Mishra, R. K., & Mariappan, I. (2025) · Scientific Reports · doi:10.1038/s41598-025-28951-1 · Cited by 1 · see citing works
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Stargardt disease: progress, enigmas, and prospects for therapeutic intervention
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Abca4 inhibition in a cone-rich rodent leads to Stargardt Disease type 1-like retinal degenerationPreprint
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Pathophysiological Mechanisms of High Fat Diet Induced Neurological Disorders: An Impending Approach
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- Authors
- Conley, S. M., Cai, X., Makkia, R., Wu, Y., Sparrow, J. R., & Naash, M. I.
- Affiliations
- University of Oklahoma Health Sciences Center (US)
- Columbia University (US)
- Corresponding author
- Naash, Muna I.
- Venue
- Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
- Publisher
- Elsevier BV
- Published
- 2012-07
- Volume
- 1822
- Issue
- 7
- Pages
- 1169-1179
- ISSN
- 0925-4439 (ISSN-L)
- PMC
- PMC3351560
- OpenAlex
- W2048673358
- Cited by
- 54
- References
- 42
- Citations by year
- 2026: 5 · 2025: 8 · 2024: 2 · 2023: 3 · 2022: 7 · 2021: 7 · 2020: 4 · 2018: 3 · 2016: 2 · 2015: 1 · 2014: 7 · 2013: 1 · 2012: 4
- FWCI
- 1.56
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Funders
- National Eye Institute (R01EY012951, EY 12951, P30EY012190, EY018512, F32EY018512, R56EY010609, P30EY019007, EY10609, EY-12190, R01EY018656, R01EY010609, EY018656)
- 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
- Stargardt disease, ABCA4, cone photoreceptors, rod photoreceptors, A2E, retinal pigment epithelium, lipofuscin granules, macular degeneration, retinal degeneration, vision loss, mouse model
- MeSH terms
- Analysis of Variance, Animals, Blindness, Dark Adaptation, Eye Proteins, Humans, Lipofuscin, Macular Degeneration, Microscopy, Electron, Pyridinium Compounds, Retina, Retinaldehyde, Retinoids, Vision, Ocular, Retinal Rod Photoreceptor Cells, Retinal Cone Photoreceptor Cells, Mice, Knockout, ATP-Binding Cassette Transporters, Basic-Leucine Zipper Transcription Factors, Mice, Retinal Pigment Epithelium
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