ArticleDocumenta ophthalmologica. Advances in ophthalmology2009
Detailed analysis of retinal function and morphology in a patient with autosomal recessive bestrophinopathy (ARB).
Article in Documenta ophthalmologica. Advances in ophthalmology, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
What it found
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
26 citing papers in PubMed, 59 citations in OpenAlex.
- Gene Therapy Strategies for the Treatment of Bestrophinopathies.International journal of molecular sciences · 2025Review
- Clinical and genetic features in autosomal recessive bestrophinopathy in Chinese cohort.BMC ophthalmology · 2024Article
- Detection of Novel BEST1 Variations in Autosomal Recessive Bestrophinopathy Using Third-generation Sequencing.Current medical science · 2024Article
- BEST1 novel mutation causes Bestrophinopathies in six families with distinct phenotypic diversity.Molecular genetics & genomic medicine · 2023Article
- Article
- Angle-closure glaucoma associated with autosomal recessive bestrophinopathy.Indian journal of ophthalmology · 2022Article
- Phenotypic and Genetic Spectrum of Autosomal Recessive Bestrophinopathy and Best Vitelliform Macular Dystrophy.Investigative ophthalmology & visual science · 2021Article
- Induced Pluripotent Stem Cell Modeling of Best Disease and Autosomal Recessive Bestrophinopathy.Yonsei medical journal · 2020Article
- Article
- Pathogenicity of new BEST1 variants identified in Italian patients with best vitelliform macular dystrophy assessed by computational structural biology.Journal of translational medicine · 2019Article
- Detailed analysis of family with autosomal recessive bestrophinopathy associated with new BEST1 mutation.Documenta ophthalmologica. Advances in ophthalmology · 2016Article
- Reply: To PMID 25545482.Retina (Philadelphia, Pa.) · 2015Article
- New best1 mutations in autosomal recessive bestrophinopathy.Retina (Philadelphia, Pa.) · 2015Article
- Author Response: Outer Retinal Bands.Investigative ophthalmology & visual science · 2015Article
- Autosomal recessive bestrophinopathy associated with angle-closure glaucoma.Documenta ophthalmologica. Advances in ophthalmology · 2014Article
- Screening for BEST1 gene mutations in Chinese patients with bestrophinopathy.Molecular vision · 2014Article
- Value of anti-VEGF treatment in choroidal neovascularization associated with autosomal recessive bestrophinopathy.Digital journal of ophthalmology : DJO · 2013Article
- A novel compound heterozygous mutation in the BEST1 gene causes autosomal recessive Best vitelliform macular dystrophy.Eye (London, England) · 2012Article
- BEST1 sequence variants in Italian patients with vitelliform macular dystrophy.Molecular vision · 2012Article
- Phenotypic variability in a French family with a novel mutation in the BEST1 gene causing multifocal best vitelliform macular dystrophy.Molecular vision · 2011Article
Corrections and comments
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Authors and funding
4 authors at 3 institutions in 3 countries.
Funding
Abstract
The objective of the paper is to study the retinal microstructure and function in a patient with autosomal recessive bestrophinopathy (ARB). Retinal function and morphology assessment in a patient diagnosed with a biallelic mutation in the BEST1 gene (heterozygote mutations: Leu88del17 and A195V) included: full-field electroretinogram (ffERG) and multifocal electroretinogram (mfERG), electro-oculogram (EOG) testing, and imaging with a high-resolution Fourier-domain optical coherence tomography (Fd-OCT) system (UC Davis Medical Center; axial resolution: 4.5 microm, acquisition speed: 9 frames/s, 1,000 A-scans/frame) combined with a flexible scanning head (Bioptigen Inc.). The 11-year old asymptomatic boy showed a well-demarcated retinopathy with deposits. Functional assessment revealed normal visual acuity, reduced central mfERG responses, delayed rod and rod-cone b-wave ffERG responses, and reduced light rise in the EOG. Fd-OCT demonstrated RPE deposits, photoreceptor detachment, elongated and thickened photoreceptor outer segments, but preserved inner retinal layers. In conclusion, ARB associated retinal dystrophy shows functional and morphological changes that overlap with classic Best disease. For the first time, high-resolution imaging provided in vivo evidence of RPE and photoreceptor involvement in ARB.
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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.