ArticleInvestigative ophthalmology & visual science2020
Photoreceptor Structure in GNAT2-Associated Achromatopsia.
Article in Investigative ophthalmology & visual science, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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Who cites it
26 citing papers in PubMed, 38 citations in OpenAlex.
- In Vivo Human Cone Photoreceptor Inner Segment Diameter Database Using Adaptive Optics Retinal Imaging.Investigative ophthalmology & visual science · 2026Article
- CNGA3-Related Achromatopsia: A 10-Year Follow-Up.Journal of vitreoretinal diseases · 2026Article
- Monogenic Retinal Diseases Associated With Genes Encoding Phototransduction Proteins: A Review.Clinical & experimental ophthalmology · 2025Review
- Early-Onset Cone Photoreceptor Degeneration Is Associated With High Myopia inJournal of ophthalmology · 2025Article
- Ultrafast adaptive optics for imaging the living human eye.Nature communications · 2024Article
- Longitudinal Imaging of the Foveal Cone Mosaic in CNGA3-Associated Achromatopsia.Investigative ophthalmology & visual science · 2024Article
- Gene Therapy for Achromatopsia.International journal of molecular sciences · 2024Review
- Review
- Dyschromatopsia: a comprehensive analysis of mechanisms and cutting-edge treatments for color vision deficiency.Frontiers in neuroscience · 2024Review
- 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
- Adaptive Optics Imaging of Inherited Retinal Disease.Cold Spring Harbor perspectives in medicine · 2023Review
- Twenty-five years of clinical applications using adaptive optics ophthalmoscopy [Invited].Biomedical optics express · 2023Review
- Axial Length Distributions in Patients With Genetically Confirmed Inherited Retinal Diseases.Investigative ophthalmology & visual science · 2022Article
- Patches of Dysflective Cones in Eyes With No Known Disease.Investigative ophthalmology & visual science · 2022Article
- Structural evaluation in inherited retinal diseases.The British journal of ophthalmology · 2021Review
- Theoretical versus empirical measures of retinal magnification for scaling AOSLO images.Journal of the Optical Society of America. A, Optics, image science, and vision · 2021Article
- Promises and pitfalls of evaluating photoreceptor-based retinal disease with adaptive optics scanning light ophthalmoscopy (AOSLO).Progress in retinal and eye research · 2021Review
- Examining Whether AOSLO-Based Foveal Cone Metrics in Achromatopsia and Albinism Are Representative of Foveal Cone Structure.Translational vision science & technology · 2021Article
- Clinical and Molecular Characterization of Achromatopsia Patients: A Longitudinal Study.International journal of molecular sciences · 2021Observational
- Optical Coherence Tomography Artifacts Are Associated With Adaptive Optics Scanning Light Ophthalmoscopy Success in Achromatopsia.Translational vision science & technology · 2021Article
Corrections and comments
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Authors and funding
10 authors at 4 institutions in 2 countries.
Funding
Abstract
Purpose: The purpose of this study was to report GNAT2-associated achromatopsia (GNAT2-ACHM) natural history, characterize photoreceptor mosaic, and determine a therapeutic window for potential intervention. Methods: Patients with GNAT2-ACHM were recruited from a single tertiary referral eye center (Moorfields Eye Hospital, London, UK). We performed longitudinal clinical evaluation and ophthalmic examination, and multimodal retinal imaging, including adaptive optics scanning light ophthalmoscopy, quantitative analysis of the cone mosaic, and outer nuclear layer (ONL) thickness, including cone densities evaluation in selected regions of interest and comparison with reported healthy controls. Results: All nine subjects (3 women) presented with nystagmus, decreased visual acuity (VA), light sensitivity, and highly variable color vision loss. One patient had normal color vision and better VA. Mean VA was 1.01 (±0.10) logarithms of the minimal angle of resolution (LogMAR) at baseline, and 1.04 (±0.10) LogMAR after a mean follow-up (range) of 7.6 years (1.7-12.8 years). Optical coherence tomography showed preservation of the foveal ellipsoid zone (EZ; n = 8; 88.9%), and EZ disruption (n = 1; 11.1%). Mean ONL thickness (range, ± SD) was 84.72 µm (28.57-113.33, ± 25.46 µm) and 86.47 µm (28.57-113.33, ± 24.65 µm) for right and left eyes, respectively. Mean cone densities (±SD) at 190 µm, 350 µm, and 500 µm from the foveal center, were 48.4 (±24.6), 37.8 (±14.7), and 30.7 (±9.9), ×103 cones/mm2, respectively. Mean cone densities were lower than these of unaffected individuals, but with an overlap. Conclusions: The cone mosaic in GNAT2-ACHM is relatively well preserved, potentially allowing for a wide therapeutic window for cone-directed interventions.
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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.