ArticleOphthalmology science
Longitudinal Imaging of the Parafoveal Cone Mosaic in Congenital Achromatopsia.
Article in Ophthalmology science. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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12 authors.
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Abstract
Purpose: To assess longitudinal changes in parafoveal cone density in individuals with congenital achromatopsia (ACHM). Design: Retrospective longitudinal study. Participants: Nineteen individuals (7 women and 12 men) with genetically confirmed ACHM. To be eligible, each had adaptive optics scanning light ophthalmoscope (AOSLO) images of the photoreceptor mosaic from ≥2 time points. Methods: For each individual, follow-up AOSLO montages were aligned to their baseline montage. Notably, 100 × 100 μm regions of interest (ROIs) were extracted from the split-detection modality at locations 1°, 5°, and 10° temporal (T) from the peak cone density in each montage. All ROIs from follow-up visits were then manually aligned to their respective baseline ROI for that location. Cones were identified in each ROI by one observer, reviewed by a second observer, and confirmed together in a masked fashion. Cone density was calculated, and a linear mixed model was used to assess changes in density over time. A Wald test was performed to determine if the cone density changes were statistically significant. Main Outcome Measures: Parafoveal cone spacing (at 1°, 5°, and 10° T) as a function of time. Results: The mean (± standard deviation [SD]) age at baseline was 21.6 ± 10.7 years and the mean (±SD) follow-up period was 3.83 ± 2.93 years (range, 0.46-8.66 years). At 1° T, we observed a significant decrease of 352 cones/mm Conclusions: Parafoveal cone density estimates in ACHM show a small decrease over time. These observed changes are within the previously reported longitudinal repeatability values for normal retinas, suggesting the observed average cone loss may not be clinically meaningful. Further studies with longer follow-up times and more genetically heterogeneous and age-diverse populations are needed to better understand factors contributing to changes in foveal and parafoveal cone structure in ACHM over time. Financial Disclosures: Proprietary or commercial disclosures may be found in the Footnotes and Disclosures at the end of this article.
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