Observational studyAmerican journal of ophthalmology2016
Unilateral BEST1-Associated Retinopathy.
Observational study in American journal of ophthalmology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed.
- Review of the clinical electrooculogram - Part 2: the bestrophinopathies and modified protocols.Documenta ophthalmologica. Advances in ophthalmology · 2026Review
- Gene Therapy Strategies for the Treatment of Bestrophinopathies.International journal of molecular sciences · 2025Review
- Unilateral best vitelliform macular dystrophy- a case series.Documenta ophthalmologica. Advances in ophthalmology · 2025Article
- Adult-Onset Foveomacular Vitelliform Dystrophy With Unilateral Presentation: A Case Series.Cureus · 2024Article
- Best Vitelliform Macular Dystrophy Natural History Study Report 1: Clinical Features and Genetic Findings.Ophthalmology · 2024Observational
- Article
- Photoreceptor and Retinal Pigment Epithelium Relationships in Eyes With Vitelliform Macular Dystrophy Revealed by Multimodal Adaptive Optics Imaging.Investigative ophthalmology & visual science · 2022Article
- Article
- Phenotypic and Genetic Spectrum of Autosomal Recessive Bestrophinopathy and Best Vitelliform Macular Dystrophy.Investigative ophthalmology & visual science · 2021Article
- Autosomal Recessive Bestrophinopathy: Clinical Features, Natural History, and Genetic Findings in Preparation for Clinical Trials.Ophthalmology · 2021Article
- Variable expressivity ofBMJ open ophthalmology · 2021Article
- Macular dystrophies: clinical and imaging features, molecular genetics and therapeutic options.The British journal of ophthalmology · 2020Review
- Multimodal Imaging in Best Vitelliform Macular Dystrophy.Investigative ophthalmology & visual science · 2019Article
- Article
- Genetic variations in Bestrophin‑1 and associated clinical findings in two Chinese patients with juvenile‑onset and adult‑onset best vitelliform macular dystrophy.Molecular medicine reports · 2018Article
- Article
- Juvenile Macular Degenerations.Seminars in pediatric neurology · 2017Review
- Bestrophin 1 and retinal disease.Progress in retinal and eye research · 2017Review
- Multimodal Imaging and Dark-Adapted Chromatic Perimetry in BEST1 Vitelliform Macular Dystrophy: Identification of Outcome Measurements.Ophthalmology scienceArticle
- Gene therapy in bestrophinopathies: Insights from preclinical studies in preparation for clinical trials.Saudi journal of ophthalmology : official journal of the Saudi Ophthalmological SocietyArticle
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Authors and funding
9 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeTo describe a series of patients with molecularly confirmed mutation in BEST1 causing Best disease but with unilateral clinical manifestation.
designRetrospective observational case series.
methods
settingMoorfields Eye Hospital and Great Ormond Street Hospital, London (United Kingdom). PATIENTS: Five patients (10 eyes) with uniocular manifestation of BEST1 mutation causing Best disease were ascertained retrospectively from the clinical and genetic databases.
main outcome measuresPatients had full ophthalmologic examination, color fundus photography, fundus autofluorescence imaging, spectral-domain optical coherence tomography, and detailed electrophysiological assessment. Genetic testing was performed.
resultsAll cases had a clinical appearance typical of and consistent with Best disease at various stages, except that the presentation was unilateral. The reduced electrooculogram light rise was bilateral and in the context of normal electroretinograms therefore indicates generalized dysfunction at the level of the retinal pigment epithelium.
conclusionsMutation in BEST1 has variable penetrance and expressivity, and can be uniocular. The clinical and electrophysiological features described assist targeted mutational screening and alert to the potential diagnosis even when there is an atypical unilateral presentation.
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