ArticleInvestigative ophthalmology & visual science2014
Relationship between foveal cone specialization and pit morphology in albinism.
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 97 papers, 1 of them a synthesis that pooled it.
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Who cites it
97 citing papers in PubMed, 1 synthesis or guideline pooled it, 136 citations in OpenAlex.
- Dynamic changes in ocular shape during human development and its implications for retina fovea formation.BioEssays : news and reviews in molecular, cellular and developmental biology · 2024Pooled it
- FREQUENT SUBCLINICAL MACULAR CHANGES IN COMBINED BRAF/MEK INHIBITION WITH HIGH-DOSE HYDROXYCHLOROQUINE AS TREATMENT FOR ADVANCED METASTATIC BRAF MUTANT MELANOMA: Preliminary Results From a Phase I/II Clinical Treatment Trial.Retina (Philadelphia, Pa.) · 2019Trial
- REPEATABILITY AND LONGITUDINAL ASSESSMENT OF FOVEAL CONE STRUCTURE IN CNGB3-ASSOCIATED ACHROMATOPSIA.Retina (Philadelphia, Pa.) · 2017Trial
- The relationship between foveal anatomy and retinal function in oculocutaneous albinism.Documenta ophthalmologica. Advances in ophthalmology · 2026Article
- Quantifying functional vision in a mouse model of oculocutaneous albinism type 1.Scientific reports · 2026Article
- Assessing the Relationship between Foveal Cone Density, Outer Nuclear Layer Thickness and Foveal Morphology.Ophthalmology science · 2026Article
- Successful Generation of Germline Tyrosinase Gene Edited Thirteen-Lined Ground Squirrels (Ictidomys tridecemlineatus Mitchill 1821).Molecular reproduction and development · 2025Article
- Neural contrast sensitivity is not affected by myopic blur.Scientific reports · 2025Article
- In Vivo Cone Photoreceptor Topography of the Human Foveola.Investigative ophthalmology & visual science · 2025Article
- Genetic insights into foveal morphology and its associations with pigmentation and age-related macular degeneration.medRxiv : the preprint server for health sciences · 2025Article
- Article
- Molecular insights into foveal hypoplasia: development, genetics, mechanisms, and models.Molecular vision · 2025Review
- Band Visibility in High-Resolution Optical Coherence Tomography Assessed With a Custom Review Tool and Updated, Histology-Derived Nomenclature.Translational vision science & technology · 2024Article
- In Vivo Assessment of Retinal Phenotypes in Axenfeld-Rieger Syndrome.Investigative ophthalmology & visual science · 2024Article
- Quantitative Foveal Structural Metrics as Predictors of Visual Acuity in Human Albinism.Investigative ophthalmology & visual science · 2024Article
- Peak Cone Density Predicted from Outer Segment Length Measured on Optical Coherence Tomography.Current eye research · 2024Article
- Phenotypic Features Determining Visual Acuity in Albinism and the Role of Amblyogenic Factors.Investigative ophthalmology & visual science · 2024Article
- Novel ophthalmic findings and deep phenotyping in Williams-Beuren syndrome.The British journal of ophthalmology · 2023Article
- Ultrahigh Resolution OCT Markers of Normal Aging and Early Age-related Macular Degeneration.Ophthalmology science · 2023Article
- Abnormal foveal morphology in carriers of oculocutaneous albinism.The British journal of ophthalmology · 2023Observational
37 more citing papers are in PubMed but not listed here.
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Authors and funding
17 authors at 7 institutions in 2 countries.
Funding
Abstract
purposeAlbinism is associated with disrupted foveal development, though intersubject variability is becoming appreciated. We sought to quantify this variability, and examine the relationship between foveal cone specialization and pit morphology in patients with a clinical diagnosis of albinism.
methodsWe recruited 32 subjects with a clinical diagnosis of albinism. DNA was obtained from 25 subjects, and known albinism genes were analyzed for mutations. Relative inner and outer segment (IS and OS) lengthening (fovea-to-perifovea ratio) was determined from manually segmented spectral domain-optical coherence tomography (SD-OCT) B-scans. Foveal pit morphology was quantified for eight subjects from macular SD-OCT volumes. Ten subjects underwent imaging with adaptive optics scanning light ophthalmoscopy (AOSLO), and cone density was measured.
resultsWe found mutations in 22 of 25 subjects, including five novel mutations. All subjects lacked complete excavation of inner retinal layers at the fovea, though four subjects had foveal pits with normal diameter and/or volume. Peak cone density and OS lengthening were variable and overlapped with that observed in normal controls. A fifth hyper-reflective band was observed in the outer retina on SD-OCT in the majority of the subjects with albinism.
conclusionsFoveal cone specialization and pit morphology vary greatly in albinism. Normal cone packing was observed in the absence of a foveal pit, suggesting a pit is not required for packing to occur. The degree to which retinal anatomy correlates with genotype or visual function remains unclear, and future examination of larger patient groups will provide important insight on this issue.
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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.