ArticleProceedings of the National Academy of Sciences of the United States of America2009
Cone photoreceptor mosaic disruption associated with Cys203Arg mutation in the M-cone opsin.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 57 papers.
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Who cites it
57 citing papers in PubMed, 74 citations in OpenAlex.
- Cone Opsins and Inherited Retinal Disease.Cells · 2026Review
- Roadmap on advances in visual and physiological optics.Journal of optics (2010) · 2025Review
- Structural and functional rescue of cones carrying the most common cone opsin C203R missense mutation.JCI insight · 2024Article
- Expression of red/green-cone opsin mutants K82E, P187S, M273K result in unique pathobiological perturbations to cone structure and function.Frontiers in neuroscience · 2024Article
- Change in Cone Structure Over 24 Months in USH2A-Related Retinal Degeneration.American journal of ophthalmology · 2023Article
- Adaptive Optics Imaging of Inherited Retinal Disease.Cold Spring Harbor perspectives in medicine · 2023Review
- Blue cone monochromacy and gene therapy.Vision research · 2023Review
- Extracting spacing-derived estimates of rod density in healthy retinae.Biomedical optics express · 2023Article
- Foveal Cone Structure in Patients With Blue Cone Monochromacy.Investigative ophthalmology & visual science · 2022Article
- Blue Cone Monochromatism: A Case Report with Opsoclonus and Light Exposure.Journal of pediatric genetics · 2022Article
- Comparison of Cone Mosaic Metrics From Images Acquired With the SPECTRALIS High Magnification Module and Adaptive Optics Scanning Light Ophthalmoscopy.Translational vision science & technology · 2022Article
- Long-term retinal imaging of a case of suspected congenital rubella infection.American journal of ophthalmology case reports · 2022Article
- Computer-assisted photoreceptor assessment on Heidelberg Engineering Spectralis™ High Magnification Module™ images.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2021Article
- Disease mechanisms of X-linked cone dystrophy caused by missense mutations in the red and green cone opsins.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2021Article
- Intermixing theGenes · 2021Review
- Promises and pitfalls of evaluating photoreceptor-based retinal disease with adaptive optics scanning light ophthalmoscopy (AOSLO).Progress in retinal and eye research · 2021Review
- Revealing How Color Vision Phenotype and Genotype Manifest in Individual Cone Cells.Investigative ophthalmology & visual science · 2021Article
- Residual Cone Structure in Patients With X-Linked Cone Opsin Mutations.Investigative ophthalmology & visual science · 2018Article
- Color Vision in Aniridia.Investigative ophthalmology & visual science · 2018Article
- Multimodal imaging of small hard retinal drusen in young healthy adults.The British journal of ophthalmology · 2018Article
Corrections and comments
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Authors and funding
13 authors at 4 institutions in 3 countries.
Funding
Abstract
Missense mutations in the cone opsins have been identified as a relatively common cause of red/green color vision defects, with the most frequent mutation being the substitution of arginine for cysteine at position 203 (C203R). When the corresponding cysteine is mutated in rhodopsin, it disrupts proper folding of the pigment, causing severe, early onset retinitis pigmentosa. While the C203R mutation has been associated with loss of cone function in color vision deficiency, it is not known what happens to cones expressing this mutant opsin. Here, we used high-resolution retinal imaging to examine the cone mosaic in two individuals with genes encoding a middle-wavelength sensitive (M) pigment with the C203R mutation. We found a significant reduction in cone density compared to normal and color-deficient controls, accompanying disruption in the cone mosaic in both individuals, and thinning of the outer nuclear layer. The C203R mosaics were different from that produced by another mutation (LIAVA) previously shown to disrupt the cone mosaic. Comparison of these mosaics provides insight into the timing and degree of cone disruption and has implications for the prospects for restoration of vision loss associated with various cone opsin mutations.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.