ArticleInvestigative ophthalmology & visual science2019
Adaptive Optics Retinal Imaging in CNGA3-Associated Achromatopsia: Retinal Characterization, Interocular Symmetry, and Intrafamilial Variability.
Article in Investigative ophthalmology & visual science, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 42 papers.
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Who cites it
42 citing papers in PubMed.
- Temporal vision adaptation and restoration in achromatopsia.iScience · 2026Article
- Reflective broadband adaptive optics scanning light ophthalmoscope with 20 D focus range.Biomedical optics express · 2026Article
- Telecentric model eye for correction of image distortion in adaptive optics ophthalmoscopes.Biomedical optics express · 2025Article
- Enhanced genotype-phenotype analysis using multimodal adaptive optics and 3D protein structure in Bietti Crystalline Dystrophy.American journal of ophthalmology case reports · 2025Article
- Mutations in retinal cyclic nucleotide-gated channels identified in familial cases of inherited retinal dystrophies from Pakistan.Molecular vision · 2025Article
- Interocular symmetry and asymmetry in ocular health and disease.Frontiers in medicine · 2025Review
- From Cellular to Metabolic: Advances in Imaging of Inherited Retinal Diseases.Diagnostics (Basel, Switzerland) · 2024Review
- 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
- Congenital Stationary Night Blindness: Structure, Function and Genotype-Phenotype Correlations in a Cohort of 122 Patients.Ophthalmology. Retina · 2024Article
- Multimodal in-vivo maps as a tool to characterize retinal structural biomarkers for progression in adult-onset Stargardt disease.Frontiers in ophthalmology · 2024Article
- Cone Density Distribution and Related Factors in Patients Receiving Hydroxychloroquine Treatment.Investigative ophthalmology & visual science · 2023Article
- Adaptive Optics Imaging of Inherited Retinal Disease.Cold Spring Harbor perspectives in medicine · 2023Review
- Cone Photoreceptor Morphology in Choroideremia Assessed Using Non-Confocal Split-Detection Adaptive Optics Scanning Light Ophthalmoscopy.Investigative ophthalmology & visual science · 2023Article
- Twenty-five years of clinical applications using adaptive optics ophthalmoscopy [Invited].Biomedical optics express · 2023Review
- A demonstration of cone function plasticity after gene therapy in achromatopsia.Brain : a journal of neurology · 2022Article
- Foveal Cone Structure in Patients With Blue Cone Monochromacy.Investigative ophthalmology & visual science · 2022Article
- Comparison of OCT imaging in children with foveal hypoplasia born full term versus preterm.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2022Article
- Longitudinal Evaluation of Changes in Retinal Architecture Using Optical Coherence Tomography in Achromatopsia.Investigative ophthalmology & visual science · 2022Article
- Axial Length Distributions in Patients With Genetically Confirmed Inherited Retinal Diseases.Investigative ophthalmology & visual science · 2022Article
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Authors and funding
12 authors.
Funding
Abstract
Purpose: To investigate retinal structure in subjects with CNGA3-associated achromatopsia and evaluate disease symmetry and intrafamilial variability. Methods: Thirty-eight molecularly confirmed subjects underwent ocular examination, optical coherence tomography (OCT), and nonconfocal split-detection adaptive optics scanning light ophthalmoscopy (AOSLO). OCT scans were used for evaluating foveal hypoplasia, grading foveal ellipsoid zone (EZ) disruption, and measuring outer nuclear layer (ONL) thickness. AOSLO images were used to quantify peak foveal cone density, intercell distance (ICD), and the coefficient of variation (CV) of ICD. Results: Mean (±SD) age was 25.9 (±13.1) years. Mean (± SD) best corrected visual acuity (BCVA) was 0.87 (±0.14) logarithm of the minimum angle of resolution. Examination with OCT showed variable disruption or loss of the EZ. Seven subjects were evaluated for disease symmetry, with peak foveal cone density, ICD, CV, ONL thickness, and BCVA not differing significantly between eyes. A cross-sectional evaluation of AOSLO imaging showed a mean (±SD) peak foveal cone density of 19,844 (±13,046) cones/mm2. There was a weak negative association between age and peak foveal cone density (r = -0.397, P = 0.102), as well as between EZ grade and age (P = 0.086). Conclusions: The remnant cone mosaics were irregular and variably disrupted, with significantly lower peak foveal cone density than unaffected individuals. Variability was also seen among subjects with identical mutations. Therefore, subjects should be considered on an individual basis for stratification in clinical trials. Interocular symmetry suggests that both eyes have comparable therapeutic potential and the fellow eye can serve as a valid control. Longitudinal studies are needed, to further examine the weak negative association between age and foveal cone structure observed here.
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