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Clinical Features and Genetic Findings of Autosomal Recessive Bestrophinopathy

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dc.contributor.author강현구-
dc.contributor.author김성수-
dc.contributor.author김용준-
dc.contributor.author변석호-
dc.contributor.author이승규-
dc.contributor.author한진우-
dc.date.accessioned2022-08-23T00:34:04Z-
dc.date.available2022-08-23T00:34:04Z-
dc.date.issued2022-07-
dc.identifier.urihttps://ir.ymlib.yonsei.ac.kr/handle/22282913/189501-
dc.description.abstractAutosomal recessive bestrophinopathy (ARB) is a rare subtype of bestrophinopathy caused by biallelic mutations of the BEST1 gene. ARB is characterized by multifocal subretinal deposits accompanied by macular edema or subretinal fluid, hyperopia, co-existing narrow angle, and a marked decrease in electrooculogram. However, little is known about the genetic variants and specific clinical features of ARB. This is an observational case series of patients with a clinical and genetic diagnosis of ARB who underwent multimodal imaging. We describe ten patients from nine unrelated families with six known variants and three novel missense variants: c.236C→T, p.(Ser79Phe); C.452C→T, p.(Leu151Pro); and c.650C→T, p.(Trp217Met). The most common variant was c.584C→T, p.(Ala195Val), observed in six patients, without correlation to the severity of the phenotype. All patients manifested bilateral multifocal subretinal deposits and subretinal fluid throughout the follow-up period, while intraretinal fluid was found in approximately half of the eyes. The extent or chronicity of the fluid collection did not correlate with visual acuity. Angle-closure glaucoma was present in five eyes. Three patients had a genetically confirmed family history of ARB, and one patient had a clinically suspected family history. This study reveals novel mutations in the BEST1 gene and adds to the spectrum of clinical presentations of ARB.-
dc.description.statementOfResponsibilityopen-
dc.languageEnglish-
dc.publisherMDPI-
dc.relation.isPartOfGENES-
dc.rightsCC BY-NC-ND 2.0 KR-
dc.subject.MESHAngiotensin Receptor Antagonists*-
dc.subject.MESHAngiotensin-Converting Enzyme Inhibitors-
dc.subject.MESHBestrophins / genetics-
dc.subject.MESHChloride Channels / genetics-
dc.subject.MESHDNA Mutational Analysis-
dc.subject.MESHElectroretinography*-
dc.subject.MESHEye Diseases, Hereditary-
dc.subject.MESHMutation-
dc.subject.MESHPedigree-
dc.subject.MESHRetinal Diseases-
dc.subject.MESHTomography, Optical Coherence-
dc.titleClinical Features and Genetic Findings of Autosomal Recessive Bestrophinopathy-
dc.typeArticle-
dc.contributor.collegeCollege of Medicine (의과대학)-
dc.contributor.departmentDept. of Ophthalmology (안과학교실)-
dc.contributor.googleauthorHae Rang Kim-
dc.contributor.googleauthorJinu Han-
dc.contributor.googleauthorYong Joon Kim-
dc.contributor.googleauthorHyun Goo Kang-
dc.contributor.googleauthorSuk Ho Byeon-
dc.contributor.googleauthorSung Soo Kim-
dc.contributor.googleauthorChristopher Seungkyu Lee-
dc.identifier.doi10.3390/genes13071197-
dc.contributor.localIdA04873-
dc.contributor.localIdA00571-
dc.contributor.localIdA05821-
dc.contributor.localIdA01849-
dc.contributor.localIdA02913-
dc.contributor.localIdA04329-
dc.relation.journalcodeJ03926-
dc.identifier.eissn2073-4425-
dc.identifier.pmid35885980-
dc.subject.keywordBEST1 gene-
dc.subject.keywordautosomal recessive bestrophinopathy (ARB)-
dc.contributor.alternativeNameKang, Hyun Goo-
dc.contributor.affiliatedAuthor강현구-
dc.contributor.affiliatedAuthor김성수-
dc.contributor.affiliatedAuthor김용준-
dc.contributor.affiliatedAuthor변석호-
dc.contributor.affiliatedAuthor이승규-
dc.contributor.affiliatedAuthor한진우-
dc.citation.volume13-
dc.citation.number7-
dc.citation.startPage1197-
dc.identifier.bibliographicCitationGENES, Vol.13(7) : 1197, 2022-07-
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Ophthalmology (안과학교실) > 1. Journal Papers

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