ArticleInvestigative ophthalmology & visual science2012
The effect of cone opsin mutations on retinal structure and the integrity of the photoreceptor mosaic.
Article in Investigative ophthalmology & visual science, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 68 papers.
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Who cites it
68 citing papers in PubMed, 96 citations in OpenAlex.
- Gene therapy rescues cone function inMolecular therapy. Advances · 2026Article
- Clinical, Genetic, Imaging and Electrophysiological Findings in a Cohort of Patients With GUCA1A-Associated Retinopathy.Investigative ophthalmology & visual science · 2025Article
- Evaluation of Retinal Structure and Visual Function in Blue Cone Monochromacy to Develop Clinical Endpoints for L-opsin Gene Therapy.International journal of molecular sciences · 2024Article
- Optimization-Based Pairwise Interaction Point Process (O-PIPP): A Precise and Universal Retinal Mosaic Modeling Approach.Investigative ophthalmology & visual science · 2024Article
- Peak Cone Density Predicted from Outer Segment Length Measured on Optical Coherence Tomography.Current eye research · 2024Article
- Piceid Octanoate Protects Retinal Cells against Oxidative Damage by Regulating the Sirtuin 1/Poly-ADP-Ribose Polymerase 1 Axis In Vitro and in rd10 Mice.Antioxidants (Basel, Switzerland) · 2024Article
- Clinical Application of Adaptive Optics Imaging in Diagnosis, Management, and Monitoring of Ophthalmological Diseases: A Narrative Review.Medical science monitor : international medical journal of experimental and clinical research · 2023Review
- Preclinical evaluation of ADVM-062, a novel intravitreal gene therapy vector for the treatment of blue cone monochromacy.Molecular therapy : the journal of the American Society of Gene Therapy · 2023Article
- Blue cone monochromacy and gene therapy.Vision research · 2023Review
- Unique Haplotypes in OPN1LW as a Common Cause of High Myopia With or Without Protanopia: A Potential Window Into Myopic Mechanism.Investigative ophthalmology & visual science · 2023Article
- 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
- The landscape of submicroscopic structural variants at theProceedings of the National Academy of Sciences of the United States of America · 2022Article
- Gene Therapy inHuman gene therapy · 2022Article
- Lutein delays photoreceptor degeneration in a mouse model of retinitis pigmentosa.Neural regeneration research · 2022Article
- Long-term retinal imaging of a case of suspected congenital rubella infection.American journal of ophthalmology case reports · 2022Article
- 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
- Comparing Retinal Structure in Patients with Achromatopsia and Blue Cone Monochromacy Using OCT.Ophthalmology science · 2021Article
- Blue Cone Monochromatism with Foveal Hypoplasia Caused by the Concomitant Effect of Variants inInternational journal of molecular sciences · 2021Article
- Intermixing theGenes · 2021Review
8 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
20 authors at 10 institutions in 5 countries.
Funding
Abstract
purposeTo evaluate retinal structure and photoreceptor mosaic integrity in subjects with OPN1LW and OPN1MW mutations.
methodsEleven subjects were recruited, eight of whom have been previously described. Cone and rod density was measured using images of the photoreceptor mosaic obtained from an adaptive optics scanning light ophthalmoscope (AOSLO). Total retinal thickness, inner retinal thickness, and outer nuclear layer plus Henle fiber layer (ONL+HFL) thickness were measured using cross-sectional spectral-domain optical coherence tomography (SD-OCT) images. Molecular genetic analyses were performed to characterize the OPN1LW/OPN1MW gene array.
resultsWhile disruptions in retinal lamination and cone mosaic structure were observed in all subjects, genotype-specific differences were also observed. For example, subjects with "L/M interchange" mutations resulting from intermixing of ancestral OPN1LW and OPN1MW genes had significant residual cone structure in the parafovea (∼25% of normal), despite widespread retinal disruption that included a large foveal lesion and thinning of the parafoveal inner retina. These subjects also reported a later-onset, progressive loss of visual function. In contrast, subjects with the C203R missense mutation presented with congenital blue cone monochromacy, with retinal lamination defects being restricted to the ONL+HFL and the degree of residual cone structure (8% of normal) being consistent with that expected for the S-cone submosaic.
conclusionsThe photoreceptor phenotype associated with OPN1LW and OPN1MW mutations is highly variable. These findings have implications for the potential restoration of visual function in subjects with opsin mutations. Our study highlights the importance of high-resolution phenotyping to characterize cellular structure in inherited retinal disease; such information will be critical for selecting patients most likely to respond to therapeutic intervention and for establishing a baseline for evaluating treatment efficacy.
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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.