ArticleDocumenta ophthalmologica. Advances in ophthalmology2016
Detailed analysis of family with autosomal recessive bestrophinopathy associated with new BEST1 mutation.
Article in Documenta ophthalmologica. Advances in ophthalmology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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5 citing papers in PubMed, 11 citations in OpenAlex.
- Characterization of functional and structural impairments in best vitelliform macular dystrophy using visual electrophysiology and optical coherence tomography in pediatric and adult patients.Documenta ophthalmologica. Advances in ophthalmology · 2026Article
- Clinical and genetic features in autosomal recessive bestrophinopathy in Chinese cohort.BMC ophthalmology · 2024Article
- Photoreceptor function and structure in retinal degenerations caused by biallelic BEST1 mutations.Vision research · 2023Article
- Multimodal imaging and genetic analysis of adult-onset best vitelliform macular dystrophy in Chinese patients.Experimental and therapeutic medicine · 2021Article
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11 authors at 4 institutions in 1 country.
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Abstract
purposeTo describe the clinical and genetic findings in a patient with autosomal recessive bestrophinopathy (ARB) and his healthy parents.
methodsThe patient and his healthy non-consanguineous parents underwent detailed ophthalmic evaluations including electro-oculography (EOG), spectral-domain optical coherence tomography (SD-OCT), and fundus autofluorescence (FAF) imaging. Mutation analysis of the BEST1 gene was performed by Sanger sequencing.
resultsThe FAF images showed multiple spots of increased autofluorescence, and the sites of these spots corresponded to the yellowish deposits detected by ophthalmoscopy. SD-OCT showed cystoid macular changes and a shallow serous macular detachment. The Arden ratio of the EOG was markedly reduced to 1.1 in both eyes. Genetic analysis of the proband detected two sequence variants of the BEST1 gene in the heterozygous state: a novel variant c.717delG, p.V239VfsX2 and an already described c.763C>T, p.R255W variant associated with Best vitelliform macular dystrophy and ARB. The proband's father carried the c.717delG, p.V239VfsX2 variant in the heterozygous state, and the mother carried the c.763C>T, p.R255W variant in the heterozygous state. The parents who were heterozygous for the BEST1 variants had normal visual acuity, EOG, SD-OCT, and FAF images.
conclusionsIn a truncating BEST1 mutation, the phenotype associated with ARB is most likely due to a marked decrease in the expression of BEST1 promoted by the nonsense-mediated decay surveillance mechanism, and it may depend on the position of the premature termination of the codon created.
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