ArticleJournal of pediatric ophthalmology and strabismus
Clinical Insights Into Foveal Morphology in Albinism.
Article in Journal of pediatric ophthalmology and strabismus. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 48 citations in OpenAlex.
- Advancing Insights into Pediatric Macular Diseases: A Comprehensive Review.Journal of clinical medicine · 2025Review
- Optical coherence tomography angiography findings in Williams-Beuren syndrome.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2024Article
- Article
- Ophthalmologic Phenotype-Genotype Correlations in Patients With Oculocutaneous Albinism Followed in a Reference Center.Investigative ophthalmology & visual science · 2023Observational
- Genotypic and Phenotypic Spectrum of Foveal Hypoplasia: A Multicenter Study.Ophthalmology · 2022Observational
- Patterning and Development of Photoreceptors in the Human Retina.Frontiers in cell and developmental biology · 2022Review
- Foveal avascular zone in oculocutaneous albinism.BMJ case reports · 2021Article
- Characterization of Retinal Thickness in Individuals with Albinism: Baseline Data for a Black South African Population.Clinical optometry · 2021Article
- Management of nystagmus in children: a review of the literature and current practice in UK specialist services.Eye (London, England) · 2020Review
- Determining the Topic Evolution and Sentiment Polarity for Albinism in a Chinese Online Health Community: Machine Learning and Social Network Analysis.JMIR medical informatics · 2020Article
- Comparison of the Morphology of the Foveal Pit Between African and Caucasian Populations.Translational vision science & technology · 2020Article
- Non-syndromic Oculocutaneous Albinism: Novel Genetic Variants and Clinical Follow Up of a Brazilian Pediatric Cohort.Frontiers in genetics · 2020Article
- Clinical and genetic variability in children with partial albinism.Scientific reports · 2019Article
- Correlation between electroretinography, foveal anatomy and visual acuity in albinism.Documenta ophthalmologica. Advances in ophthalmology · 2019Article
- Pigmentation and vision: Is GPR143 in control?Journal of neuroscience research · 2019Review
- Distribution of macular ganglion cell layer thickness in foveal hypoplasia: A new diagnostic criterion for ocular albinism.PloS one · 2019Article
- The Henle Fiber Layer in Albinism: Comparison to Normal and Relationship to Outer Nuclear Layer Thickness and Foveal Cone Density.Investigative ophthalmology & visual science · 2018Article
- CuBe: parametric modeling of 3D foveal shape using cubic Bézier.Biomedical optics express · 2017Article
- Identification of a functionally significant tri-allelic genotype in the Tyrosinase gene (TYR) causing hypomorphic oculocutaneous albinism (OCA1B).Scientific reports · 2017Article
- Longitudinal changes in macular retinal layer thickness in pediatric populations: Myopic vs non-myopic eyes.PloS one · 2017Article
Corrections and comments
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Authors and funding
9 authors at 4 institutions in 2 countries.
Funding
Abstract
purposeA hallmark of albinism is foveal hypoplasia. However, literature suggests variable foveal development. This study evaluates the association between ocular phenotype and foveal morphology to demonstrate the broad structural and functional spectrum.
methodsBest-corrected visual acuity (BCVA), nystagmus, angle kappa, stereoacuity, iris transillumination, macular melanin presence, foveal avascular zone, and annular reflex were recorded in 14 patients with albinism. Spectral-domain optical coherence tomography provided macular images.
resultsThe clinical phenotype was broad, with BCVA varying from 20/20 to 20/100. Better BCVA was associated with a preserved foveal avascular zone, annular macular reflex, stereoacuity, and macular melanin. Imaging demonstrated a continuum of foveal development correlating with BCVA. Individuals with a rudimentary pit had normal inner and outer segment lengthening and better BCVA.
conclusionsThe spectrum of ocular structure and visual function in albinism is broad, suggesting a possible diagnosis of albinism in a patient with an even more normal clinical presentation.
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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.