ArticleArchives of ophthalmology (Chicago, Ill. : 1960)2009
Phenotypic variability due to a novel Glu292Lys variation in exon 8 of the BEST1 gene causing best macular dystrophy.
Article in Archives of ophthalmology (Chicago, Ill. : 1960), 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 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
15 citing papers in PubMed, 39 citations in OpenAlex.
- Review of the clinical electrooculogram - Part 2: the bestrophinopathies and modified protocols.Documenta ophthalmologica. Advances in ophthalmology · 2026Review
- Article
- Best Vitelliform Macular Dystrophy Natural History Study Report 1: Clinical Features and Genetic Findings.Ophthalmology · 2024Observational
- Best Disease: Global Mutations Review, Genotype-Phenotype Correlation, and Prevalence Analysis in the Israeli Population.Investigative ophthalmology & visual science · 2024Article
- Choroidal Neovascularization Is Common in Best Vitelliform Macular Dystrophy and Plays a Role in Vitelliform Lesion Evolution.Ophthalmology. Retina · 2023Article
- A pathogenic in-frame deletion-insertion variant in BEST1 phenocopies Stargardt disease.JCI insight · 2022Article
- Pathogenicity of new BEST1 variants identified in Italian patients with best vitelliform macular dystrophy assessed by computational structural biology.Journal of translational medicine · 2019Article
- Unilateral BEST1-Associated Retinopathy.American journal of ophthalmology · 2016Observational
- Pharmacological Modulation of Photoreceptor Outer Segment Degradation in a Human iPS Cell Model of Inherited Macular Degeneration.Molecular therapy : the journal of the American Society of Gene Therapy · 2015Article
- Allogenic iPSC-derived RPE cell transplants induce immune response in pigs: a pilot study.Scientific reports · 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
- Three-dimensional distribution of the vitelliform lesion, photoreceptors, and retinal pigment epithelium in the macula of patients with best vitelliform macular dystrophy.Archives of ophthalmology (Chicago, Ill. : 1960) · 2012Article
- Autosomal dominant Best disease with an unusual electrooculographic light rise and risk of angle-closure glaucoma: a clinical and molecular genetic study.Molecular vision · 2011Article
- Bilateral, Solitary, Extramacular Vitelliform Retinal Lesions in a Patient With Best Disease.Journal of vitreoretinal diseasesArticle
Corrections and comments
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
Abstract
objectiveTo study the phenotypic characteristics of patients with a novel p.E292K mutation in BEST1.
methodsAffected individuals underwent ophthalmic examination and testing that included photography, autofluorescence, optical coherence tomography, and electrophysiological testing. Their DNA was analyzed for BEST1 mutations.
resultsFive patients aged 5 to 59 years who expressed the p.E292K mutation in BEST1 were identified in 3 families. Electro-oculographic light-rise was subnormal in all probands and carriers. Carriers had normal findings from fundus examination, multifocal electroretinography, and visual acuity, and were emmetropic or myopic. Only probands had hyperopia and fundus findings typical of Best macular dystrophy. Optical coherence tomography of vitelliform lesions demonstrated retinal pigment epithelium elevation without subretinal fluid; atrophic lesions exhibited disruption of the hyperreflective outer retina-retinal pigment epithelium complex. Intense hyperautofluorescence correlated with the vitelliform lesion.
conclusionsPatients with the Glu292Lys variation in BEST1 exhibit intrafamilial and interfamilial phenotypic variability. A disproportionate fraction (26%) of Best disease-causing mutations occurs in exon 8, suggesting that the portion of protein encoded by this exon (amino acids 290-316) may be especially important to bestrophin's function. Relatively good visual acuity with vitelliform lesions can be explained by preservation of the outer retina, demonstrated by optical coherence tomography. Clinical Relevance A novel mutation in this region of BEST1 carries implications for disease pathogenesis.
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