ArticleInvestigative ophthalmology & visual science2019
Multimodal Imaging in Best Vitelliform Macular Dystrophy.
Article in Investigative ophthalmology & visual science, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 34 citations in OpenAlex.
- Review of the clinical electrooculogram - Part 2: the bestrophinopathies and modified protocols.Documenta ophthalmologica. Advances in ophthalmology · 2026Review
- Bisretinoid lipofuscin, fundus autofluorescence and retinal disease.Progress in retinal and eye research · 2025Review
- Near-Infrared Autofluorescence: Early Detection of Retinal Pigment Epithelial Alterations in Inherited Retinal Dystrophies.Journal of clinical medicine · 2024Review
- Optical Coherence Tomography in Inherited Macular Dystrophies: A Review.Diagnostics (Basel, Switzerland) · 2024Review
- Retinal Imaging Findings in Inherited Retinal Diseases.Journal of clinical medicine · 2024Review
- Artificial Intelligence (AI) for Early Diagnosis of Retinal Diseases.Medicina (Kaunas, Lithuania) · 2024Review
- Multimodal imaging in Best Vitelliform Macular Dystrophy: Literature review and novel insights.European journal of ophthalmology · 2024Review
- 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
- Understanding Ocular Findings and Manifestations of Systemic Lupus Erythematosus: Update Review of the Literature.International journal of molecular sciences · 2022Review
- Longitudinal Analysis of a Resolving Foveomacular Vitelliform Lesion in ABCA4 Disease.Ophthalmology. Retina · 2022Article
- Clinical and visual electrophysiological characteristics of vitelliform macular dystrophies in the first decade of life.Indian journal of ophthalmology · 2022Article
- Disease expression caused by different variants in the BEST1 gene: genotype and phenotype findings in bestrophinopathies.Acta ophthalmologica · 2022Article
- Multimodal imaging and genetic analysis of adult-onset best vitelliform macular dystrophy in Chinese patients.Experimental and therapeutic medicine · 2021Article
- Near-Infrared Reflectance Imaging in Retinal Diseases Affecting Young Patients.Journal of ophthalmology · 2021Review
- Short-Wavelength and Near-Infrared Autofluorescence in Patients with Deficiencies of the Visual Cycle and Phototransduction.Scientific reports · 2020Article
- Macular hole and serous pigment epithelial detachment in bilateral acquired vitelliform lesions.American journal of ophthalmology case reports · 2020Article
- Cellular Changes in Retinas From Patients WithFrontiers in cell and developmental biology · 2020Article
- Lessons learned from quantitative fundus autofluorescence.Progress in retinal and eye research · 2020Review
- Multimodal Imaging and Dark-Adapted Chromatic Perimetry in BEST1 Vitelliform Macular Dystrophy: Identification of Outcome Measurements.Ophthalmology scienceArticle
Corrections and comments
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Authors and funding
6 authors at 3 institutions in 3 countries.
Funding
Abstract
Purpose: In patients diagnosed with Best vitelliform macular dystrophy (BVMD), quantitative fundus autofluorescence (qAF), near-infrared fundus autofluorescence (NIR-AF), and spectral-domain optical coherence tomography (SD-OCT) were used to elucidate pathogenic mechanisms. Methods: Fourteen patients heterozygous for BEST1 mutations were recruited. qAF was analyzed using short-wavelength fundus autofluorescence (SW-AF) images. Mean gray levels (GL) were determined in nonlesion areas (7 to 9° eccentricity) and adjusted by GL measured in an internal fluorescent reference. NIR-AF images (787 nm; sensitivity of 96) were captured and saved in non-normalized mode. Horizontal SD-OCT images also were acquired and BVMD was staged according to the OCT findings. Results: In the pre-vitelliform stage, NIR-AF imaging revealed an area of reduced fluorescence, whereas in the vitelliruptive stage, puncta of elevated NIR-AF signal were present. In both SW-AF and NIR-AF images, the vitelliform lesion in the atrophic stage was marked by reduced signal. At all stages of BVMD, nonlesion qAF was within the 95% confidence intervals for healthy eyes. Similarly, the NIR-AF intensity measurements outside the vitelliform lesion were comparable to the healthy control eye. SD-OCT scans revealed a fluid-filled detachment between the ellipsoid zone and the hyperreflectivity band attributable to RPE/Bruch's membrane. Conclusions: NIR-AF imaging can identify the pre-vitelliform stage of BVMD. Mutations in BEST1 are not associated with increased levels of SW-AF outside the vitelliform lesion. Elevated SW-AF within the fluid-filled lesion likely reflects the inability of RPE to phagocytose outer segments due to separation of RPE from photoreceptor cells, together with progressive photoreceptor cell impairment.
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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.