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Adult-Onset Vitelliform Macular Dystrophy caused by BEST1 p.Ile38Ser Mutation is a Mild Form of Best Vitelliform Macular Dystrophy

 Ikhyun Jun  ;  Joon Suk Lee  ;  Ji Hwan Lee  ;  Christopher Seungkyu Lee  ;  Seung-il Choi  ;  Heon Yung Gee  ;  Min Goo Lee  ;  Eung Kweon Kim 
 Scientific Reports, Vol.7(1) : 9146, 2017 
Journal Title
 Scientific Reports 
Issue Date
Adult-onset vitelliform macular dystrophy (AVMD) is a common and benign macular degeneration which can be caused by BEST1 mutation. Here, we investigated the clinical characteristics associated with a newly identified BEST1 mutation, p.Ile38Ser and confirmed the associated physiological functional defects. The 51-year-old patient presented bilateral small subretinal yellow deposits. Consistent with AVMD, the corresponding lesions showed hyperautofluorescence, late staining in fluorescein angiography, and subretinal hyper-reflective materials in spectral-domain optical coherence tomography. Genetic analysis demonstrated that the patient presented with a heterozygous p.Ile38Ser BEST1 mutation. Surface biotinylation and patch clamp experiments were performed in transfected HEK293T cells. Although, the identified BEST1 mutant maintains normal membrane expression, p.Ile38Ser mutant showed significantly smaller currents than wild type (WT). However, it showed larger currents than other BEST1 mutants, p.Trp93Cys, causing autosomal dominant best vitelliform macular dystrophy (BVMD), and p.Ala195Val, causing autosomal recessive bestrophinopathy (ARB). The cells expressing both WT and each BEST1 mutant showed that the functional defect of p.Ile38ser was milder than that of p.Trp93Cys, whereas combination of p.Ala195Val with WT showed good current. We identified and described the phenotype and in vitro functions of a novel BEST1 mutation causing AVMD. AVMD induced by p.Ile38Ser BEST1 mutation is a mild form of BVMD.
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1. Journal Papers (연구논문) > 1. College of Medicine (의과대학) > Dept. of Ophthalmology (안과학교실)
1. Journal Papers (연구논문) > 1. College of Medicine (의과대학) > Dept. of Pharmacology (약리학교실)
1. Journal Papers (연구논문) > 5. Research Institutes (연구소) > Corneal Dystrophy Research Institute (각막이상증연구소)
Yonsei Authors
김응권(Kim, Eung Kweon) ORCID logo https://orcid.org/0000-0002-1453-8042
이민구(Lee, Min Goo) ORCID logo https://orcid.org/0000-0001-7436-012X
이승규(Lee, Christopher Seungkyu) ORCID logo https://orcid.org/0000-0001-5054-9470
이지환(Lee, Ji Hwan)
전익현(Jun, Ik Hyun) ORCID logo https://orcid.org/0000-0002-2160-1679
지헌영(Gee, Heon Yung) ORCID logo https://orcid.org/0000-0002-8741-6177
최승일(Choi, Seung Il) ORCID logo https://orcid.org/0000-0001-7168-8795
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