ArticleArchives of ophthalmology (Chicago, Ill. : 1960)2012
Three-dimensional distribution of the vitelliform lesion, photoreceptors, and retinal pigment epithelium in the macula of patients with best vitelliform macular dystrophy.
Article in Archives of ophthalmology (Chicago, Ill. : 1960), 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
27 citing papers in PubMed, 57 citations in OpenAlex.
- Review of the clinical electrooculogram - Part 2: the bestrophinopathies and modified protocols.Documenta ophthalmologica. Advances in ophthalmology · 2026Review
- Monitoring Gene Expression in Retina with synthetic serum markers.bioRxiv : the preprint server for biology · 2026Article
- Peak Cone Density Predicted from Outer Segment Length Measured on Optical Coherence Tomography.Current eye research · 2024Article
- Multimodal imaging in Best Vitelliform Macular Dystrophy: Literature review and novel insights.European journal of ophthalmology · 2024Review
- Advanced ImageJ Analysis in Degenerative Acquired Vitelliform Lesions Using Techniques Based on Optical Coherence Tomography.Biomedicines · 2023Article
- A pathogenic in-frame deletion-insertion variant in BEST1 phenocopies Stargardt disease.JCI insight · 2022Article
- Photoreceptor Function and Structure in Autosomal Dominant Vitelliform Macular Dystrophy Caused by BEST1 Mutations.Investigative ophthalmology & visual science · 2022Article
- Microstructural changes of photoreceptor layers detected by ultrahigh-resolution SD-OCT in patients with autosomal recessive bestrophinopathy.American journal of ophthalmology case reports · 2022Article
- Photoreceptor and Retinal Pigment Epithelium Relationships in Eyes With Vitelliform Macular Dystrophy Revealed by Multimodal Adaptive Optics Imaging.Investigative ophthalmology & visual science · 2022Article
- Correlation of features on OCT with visual acuity and Gass lesion type in Best vitelliform macular dystrophy.BMJ open ophthalmology · 2021Article
- Cellular Changes in Retinas From Patients WithFrontiers in cell and developmental biology · 2020Article
- Chromatic pupilloperimetry for objective diagnosis of Best vitelliform macular dystrophy.Clinical ophthalmology (Auckland, N.Z.) · 2019Article
- Article
- Underdeveloped RPE Apical Domain Underlies Lesion Formation in Canine Bestrophinopathies.Advances in experimental medicine and biology · 2018Review
- Bestrophinopathy: An RPE-photoreceptor interface disease.Progress in retinal and eye research · 2017Review
- PHOTORECEPTOR INNER SEGMENT MORPHOLOGY IN BEST VITELLIFORM MACULAR DYSTROPHY.Retina (Philadelphia, Pa.) · 2017Article
- Functional assessment of the fundus autofluorescence pattern in Best vitelliform macular dystrophy.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2016Article
- Automated Segmentability Index for Layer Segmentation of Macular SD-OCT Images.Translational vision science & technology · 2016Article
- Autosomal Recessive Bestrophinopathy Is Not Associated With the Loss of Bestrophin-1 Anion Channel Function in a Patient With a Novel BEST1 Mutation.Investigative ophthalmology & visual science · 2015Article
- Fundus autofluorescence applications in retinal imaging.Indian journal of ophthalmology · 2015Review
Corrections and comments
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Authors and funding
9 authors at 1 institution in 1 country.
Funding
Abstract
objectiveTo describe the anatomical phenotypes of Best vitelliform macular dystrophy (BVMD) with spectral-domain optical coherence tomography (SD-OCT) in a large series of patients with confirmed mutations in the BEST1 gene.
methodsIn our retrospective observational case series, we assessed 15 patients (30 eyes) with a clinical diagnosis of vitelliform macular dystrophy who were found to have mutations in the BEST1 gene. Color fundus photographs and SD-OCT images were evaluated and compared with those of 15 age-matched controls (30 eyes). Using a validated 3-dimensional SD-OCT segmentation algorithm, we calculated the equivalent thickness of photoreceptors and the equivalent thickness of the retinal pigment epithelium for each patient. The photoreceptor equivalent thickness and the retinal pigment epithelium (RPE) equivalent thickness were compared in all patients, in a region of the macula outside the central lesion for patients with BVMD and outside the fovea in control patients. Paired t tests were used for statistical analysis.
resultsThe SD-OCT findings revealed that the vitelliform lesion consists of material above the RPE and below the outer segment tips. Additionally, drusen-like deposition of sub-RPE material was notable, and several patients exhibited a sub-RPE fibrotic nodule. Patients with BVMD had a mean photoreceptor equivalent thickness of 28.3 μm, and control patients had a mean photoreceptor equivalent thickness of 21.8 μm, a mean difference of 6.5 μm (P < .01), whereas the mean RPE equivalent thickness was not statistically different between patients with BVMD and control patients (P = .53).
conclusionsThe SD-OCT findings suggest that vitelliform material is located in the subretinal space and that BVMD is associated with diffuse photoreceptor outer segment abnormalities overlying a structurally normal RPE. CLINICAL RELEVANCE: These findings provide new insight into the pathophysiology of BVMD and thus have implications for the development of therapeutic interventions.
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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.