ArticleOphthalmology. Retina2019
The Cone Photoreceptor Mosaic in Aniridia: Within-Family Phenotype-Genotype Discordance.
Article in Ophthalmology. Retina, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed, 34 citations in OpenAlex.
- Applicability of Electroretinography Measurements in Congenital PAX6-Related Aniridia.Investigative ophthalmology & visual science · 2025Article
- Advanced Analysis Tools for Two Wavelength Autofluorescence Imaging of Macular Xanthophyll Carotenoids: ALSTAR2 Baseline.Translational vision science & technology · 2025Observational
- Band Visibility in High-Resolution Optical Coherence Tomography Assessed With a Custom Review Tool and Updated, Histology-Derived Nomenclature.Translational vision science & technology · 2024Article
- Genetic analysis using next-generation sequencing and multiplex ligation probe amplification in Chinese aniridia patients.Orphanet journal of rare diseases · 2024Article
- Deep mutational scanning quantifies DNA binding and predicts clinical outcomes of PAX6 variants.Molecular systems biology · 2024Article
- Age-Related Macular Degeneration, a Mathematically Tractable Disease.Investigative ophthalmology & visual science · 2024Review
- Peak Cone Density Predicted from Outer Segment Length Measured on Optical Coherence Tomography.Current eye research · 2024Article
- Multimodal in-vivo maps as a tool to characterize retinal structural biomarkers for progression in adult-onset Stargardt disease.Frontiers in ophthalmology · 2024Article
- Seasonal and Annual Change in Physiological Ocular Growth of 7- to 11-Year-Old Norwegian Children.Investigative ophthalmology & visual science · 2023Article
- Congenital aniridia beyond black eyes: From phenotype and novel genetic mechanisms to innovative therapeutic approaches.Progress in retinal and eye research · 2023Review
- Macular and Plasma Xanthophylls Are Higher in Age-related Macular Degeneration than in Normal Aging: Alabama Study on Early Age-related Macular Degeneration 2 Baseline.Ophthalmology science · 2023Article
- Rod and Cone Dark Adaptation in Congenital Aniridia and Its Association With Retinal Structure.Investigative ophthalmology & visual science · 2023Article
- Seasonal Variation in Diurnal Rhythms of the Human Eye: Implications for Continuing Ocular Growth in Adolescents and Young Adults.Investigative ophthalmology & visual science · 2022Article
- Retinal magnification factors at the fixation locus derived from schematic eyes with four individualized surfaces.Biomedical optics express · 2022Article
- Long-term retinal imaging of a case of suspected congenital rubella infection.American journal of ophthalmology case reports · 2022Article
- Human Foveal Cone and RPE Cell Topographies and Their Correspondence With Foveal Shape.Investigative ophthalmology & visual science · 2022Article
- Correlation between electroretinography, foveal anatomy and visual acuity in aniridia due to PAX6 mutations.Documenta ophthalmologica. Advances in ophthalmology · 2021Article
- Promises and pitfalls of evaluating photoreceptor-based retinal disease with adaptive optics scanning light ophthalmoscopy (AOSLO).Progress in retinal and eye research · 2021Review
- Morphometric analysis of the lens in human aniridia and mouse Small eye.Experimental eye research · 2021Article
- The Relationship Between Perifoveal L-Cone Isolating Visual Acuity and Cone Photoreceptor Spacing-Understanding the Transition Between Healthy Aging and Early AMD.Frontiers in aging neuroscience · 2021Article
Corrections and comments
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Authors and funding
7 authors at 3 institutions in 2 countries.
Funding
Abstract
purposeInvestigate in vivo cone photoreceptor structure in familial aniridia caused by deletion in the PAX6 gene to elucidate the complexity of between-individual variation in retinal phenotype.
designDescriptive case-control study.
participantsEight persons with congenital aniridia (40-66 yrs) from 1 family and 33 normal control participants (14-69 yrs), including 7 unaffected family members (14-53 yrs).
methodsDNA was isolated from saliva samples and used in polymerase chain reaction analysis to amplify and sequence exons and intron or exon junctions of the PAX6 gene. High-resolution retinal images were acquired with OCT and adaptive optics scanning light ophthalmoscopy. Cone density (CD; in cones per square millimeter) and mosaic regularity were estimated along nasal-temporal meridians within the central 0° to 5° eccentricity. Horizontal spectral-domain OCT line scans were segmented to analyze the severity of foveal hypoplasia (FH) and to measure retinal layer thicknesses. MAIN OUTCOMES AND MEASURES: Within-family variability in macular retinal layer thicknesses, cone photoreceptor density, and mosaic regularity in aniridia compared with normal control participants.
resultsDNA sequencing revealed a known PAX6 mutation (IV2-2delA). Those with aniridia showed variable iris phenotype ranging from almost normal appearance to no iris. Four participants with aniridia demonstrated FH grade 2, 2 demonstrated grade 3 FH, and 1 demonstrated grade 4 FH. Visual acuity ranged from 0.20 to 0.86 logarithm of the minimum angle of resolution. Adaptive optics scanning light ophthalmoscopy images were acquired from 5 family members with aniridia. Foveal CD varied between 19 899 and 55 128 cones/mm
conclusionsThe results showed considerable variability in foveal development within a family carrying the same PAX6 mutation. This, together with the structural and functional variability within each grade of foveal hypoplasia, underlines the importance of advancing knowledge about retinal cellular phenotype in aniridia.
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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.