ArticleInvestigative ophthalmology & visual science2014
A prospective longitudinal study of retinal structure and function in achromatopsia.
Article in Investigative ophthalmology & visual science, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 58 papers.
What it found
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
58 citing papers in PubMed, 87 citations in OpenAlex.
- Characterizing the Natural History of Visual Function in Choroideremia Using Microperimetry and Multimodal Retinal Imaging.Investigative ophthalmology & visual science · 2017Trial
- REPEATABILITY AND LONGITUDINAL ASSESSMENT OF FOVEAL CONE STRUCTURE IN CNGB3-ASSOCIATED ACHROMATOPSIA.Retina (Philadelphia, Pa.) · 2017Trial
- DELETION INVOLVING EXON 18 OF RPGRIP1 IS a MAJOR CAUSE OF ACHROMATOPSIA.Retina (Philadelphia, Pa.) · 2026Observational
- CNGA3-Related Achromatopsia: A 10-Year Follow-Up.Journal of vitreoretinal diseases · 2026Article
- Discrepancies Between Autofluorescence Imaging Modalities in CNGB3-Associated Achromatopsia and Correlation With Ellipsoid Zone Continuity.Translational vision science & technology · 2025Article
- Clinical and genetic features ofFrontiers in medicine · 2025Article
- Genetic phenotypic characteristics and inheritance patterns of patients with achromatopsia at a large academic institution and a review of the literature and gene therapies.Molecular vision · 2025Review
- Infantile Nystagmus Syndrome-Associated Inherited Retinal Diseases: Perspectives from Gene Therapy Clinical Trials.Life (Basel, Switzerland) · 2024Review
- Microperimetry Sensitivity Correlates to Structural Macular Changes in Adolescents with Achromatopsia Unlike Other Visual Function Tests.Journal of clinical medicine · 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
- Achromatopsia: Long term visual performance and clinical characteristics.European journal of ophthalmology · 2024Article
- Retinal Imaging Findings in Inherited Retinal Diseases.Journal of clinical medicine · 2024Review
- Longitudinal Assessment of OCT-Based Measures of Foveal Cone Structure in Achromatopsia.Investigative ophthalmology & visual science · 2024Article
- Review
- Intact high-level visual functions in congenital rod-monochromacy.Frontiers in neuroscience · 2024Article
- Achromatopsia-Visual Cortex Stability and Plasticity in the Absence of Functional Cones.Investigative ophthalmology & visual science · 2023Article
- Morphological and Functional Aspects and Quality of Life in Patients with Achromatopsia.Journal of personalized medicine · 2023Article
- Molecular and Clinical Characterization ofGenes · 2023Article
- Article
Corrections and comments
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Authors and funding
14 authors at 5 institutions in 2 countries.
Funding
Abstract
purposeTo longitudinally characterize retinal structure and function in achromatopsia (ACHM) in preparation for clinical gene therapy trials.
methodsThirty-eight molecularly confirmed ACHM subjects underwent serial assessments, including spectral domain optical coherence tomography (SD-OCT), microperimetry, and fundus autofluorescence (FAF). Foveal structure on SD-OCT was graded and compared for evidence of progression, along with serial measurements of foveal total retinal thickness (FTRT) and outer nuclear layer (ONL) thickness. Fundus autofluorescence patterns were characterized and compared over time.
resultsMean follow-up was 19.5 months (age range at baseline, 6-52 years). Only 2 (5%) of 37 subjects demonstrated change in serial foveal SD-OCT scans. There was no statistically significant change over time in FTRT (P = 0.83), ONL thickness (P = 0.27), hyporeflective zone diameter (P = 0.42), visual acuity (P = 0.89), contrast sensitivity (P = 0.22), mean retinal sensitivity (P = 0.84), and fixation stability (P = 0.58). Three distinct FAF patterns were observed (n = 30): central increased FAF (n = 4), normal FAF (n = 11), and well-demarcated reduced FAF (n = 15); with the latter group displaying a slow increase in the area of reduced FAF of 0.03 mm(2) over 19.3 months (P = 0.002).
conclusionsPreviously published cross-sectional studies have described conflicting findings with respect to the age-dependency of progression. This study, which constitutes the largest and longest prospective longitudinal study of ACHM to date, suggests that although ACHM may be progressive, any such progression is slow and subtle in most patients, and does not correlate with age or genotype. We also describe the first serial assessment of FAF, which is highly variable between individuals, even of similar age and genotype.
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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.