title: Novel BEST1 Mutations and Special Clinical Features of Best Vitelliform Macular Dystrophy.
abstract: OBJECTIVE
  To describe the clinical features and to analyze BEST1 mutations in patients with Best vitelliform macular dystrophy (BVMD).
  
  
  METHODS
  Thirteen individuals affected by BVMD from 6 unrelated Chinese families were studied. Complete ophthalmological examinations were performed, and the BEST1 gene was screened in all participants and 100 controls. Follow-ups were arranged within 12 months.
  
  
  RESULTS
  All 6 probands showed typical fundus appearances of BVMD. One of the 6 had a history of angle closure glaucoma, and another showed a unilateral focal choroidal excavation on optical coherence tomography. One patient experienced progression of the macular lesion during the follow-up. The asymptomatic mutation carriers had normal fundus but abnormal Arden ratios on electro-oculograms. Besides 4 previously reported mutations (p.Ser16Phe, p.Ser144Asn, p.Glu292Lys, p.Glu300Lys), 2 novel disease-causing mutations (p.Thr307Asp, p.Arg47His) were identified, of which p.Arg47His has been reported in adult-onset vitelliform macular dystrophy.
  
  
  CONCLUSIONS
  Our findings have expanded the mutational and clinical spectrum of BVMD in a Chinese population. Clinical presentations of angle closure glaucoma and/or focal choroidal excavation may be related to BVMD, underlining the necessity of multimodal studies and risk assessment of angle closure glaucoma in BEST1 mutation carriers. BVMD and adult-onset vitelliform macular dystrophy may share a common etiology in some cases.
authors.affiliation: Department of Ophthalmology, Eye and ENT Hospital of Fudan University, Shanghai Key Laboratory of Visual Impairment and Restoration, Shanghai, China.
authors.forename: Jingshu
authors.initials: J
authors.lastname: Liu
authors.forename: Yongjin
authors.initials: Y
authors.lastname: Zhang
authors.forename: Yi
authors.initials: Y
authors.lastname: Xuan
authors.forename: Wei
authors.initials: W
authors.lastname: Liu
authors.forename: Min
authors.initials: M
authors.lastname: Wang
mesh_terms: D000293:Adolescent; D000328:Adult; D000483:Alleles; D000075002:Bestrophins; D002648:Child; D018118:Chloride Channels / Q000235:genetics* / Q000378:metabolism; D004247:DNA / Q000235:genetics*; D004252:DNA Mutational Analysis; D004585:Electrooculography; D004596:Electroretinography; D005136:Eye Proteins / Q000235:genetics* / Q000378:metabolism; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D041623:Tomography, Optical Coherence; D057826:Vitelliform Macular Dystrophy / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D055815:Young Adult
chemical_list: C113133:BEST1 protein, human; D000075002:Bestrophins; D018118:Chloride Channels; D005136:Eye Proteins; D004247:DNA