title: Detailed analysis of family with autosomal recessive bestrophinopathy associated with new BEST1 mutation.
abstract: To describe the clinical and genetic findings in a patient with autosomal recessive bestrophinopathy (ARB) and his healthy parents.
  
  
  
  The 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.
  
  
  
  The 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.
  
  
  
  In 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.
authors.affiliation: Department of Ophthalmology, Nippon Medical School Chiba Hokusoh Hospital, 1715 Kamagari, Inzai, Chiba, 270-1694, Japan.
authors.forename: Daiki
authors.initials: D
authors.lastname: Kubota
authors.affiliation: Department of Ophthalmology, Nippon Medical School Chiba Hokusoh Hospital, 1715 Kamagari, Inzai, Chiba, 270-1694, Japan.
authors.forename: Kiyoko
authors.initials: K
authors.lastname: Gocho
authors.affiliation: Department of Ophthalmology, Nippon Medical School Chiba Hokusoh Hospital, 1715 Kamagari, Inzai, Chiba, 270-1694, Japan.
authors.forename: Keiichiro
authors.initials: K
authors.lastname: Akeo
authors.affiliation: Department of Ophthalmology, Nippon Medical School Chiba Hokusoh Hospital, 1715 Kamagari, Inzai, Chiba, 270-1694, Japan.
authors.forename: Sachiko
authors.initials: S
authors.lastname: Kikuchi
authors.affiliation: Inoue Eye Clinic, 4-3 Surugadai, Kanda, Chiyoda-ku, Tokyo, 101-0062, Japan.|Sugahara Eye Clinic, 1-13-3, Minami-senju, Arakawa-ku, Tokyo, 116-0003, Japan.
authors.forename: Michitaka
authors.initials: M
authors.lastname: Sugahara
authors.affiliation: Department of Ophthalmology, Teikyo University School of Medicine, 2-11-1 Kaga, Itabashi-ku, Tokyo, 173-8605, Japan.
authors.forename: Celso Soiti
authors.initials: CS
authors.lastname: Matsumoto
authors.affiliation: Department of Ophthalmology, Teikyo University School of Medicine, 2-11-1 Kaga, Itabashi-ku, Tokyo, 173-8605, Japan.
authors.forename: Kei
authors.initials: K
authors.lastname: Shinoda
authors.affiliation: Department of Ophthalmology, Teikyo University School of Medicine, 2-11-1 Kaga, Itabashi-ku, Tokyo, 173-8605, Japan.
authors.forename: Atsushi
authors.initials: A
authors.lastname: Mizota
authors.affiliation: Department of Ophthalmology, Nippon Medical School Chiba Hokusoh Hospital, 1715 Kamagari, Inzai, Chiba, 270-1694, Japan.
authors.forename: Kunihiko
authors.initials: K
authors.lastname: Yamaki
authors.affiliation: Department of Ophthalmology, Nippon Medical School, 1-1-5 Sendagi, Bunkyo-ku, Tokyo, 113-8602, Japan.
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Takahashi
authors.affiliation: Department of Ophthalmology, Nippon Medical School Chiba Hokusoh Hospital, 1715 Kamagari, Inzai, Chiba, 270-1694, Japan. shuheik@nms.ac.jp.
authors.forename: Shuhei
authors.initials: S
authors.lastname: Kameya
mesh_terms: D000221:Adaptation, Ocular / Q000502:physiology; D000328:Adult; D000075002:Bestrophins; D018118:Chloride Channels / Q000235:genetics*; D004252:DNA Mutational Analysis; D004585:Electrooculography; D004596:Electroretinography; D015785:Eye Diseases, Hereditary / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D005451:Fluorescein Angiography; D005654:Fundus Oculi; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009887:Ophthalmoscopy / Q000379:methods; D010290:Parents; D010641:Phenotype; D012160:Retina / Q000473:pathology / Q000503:physiopathology; D012164:Retinal Diseases / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D041623:Tomography, Optical Coherence; D014792:Visual Acuity; D057826:Vitelliform Macular Dystrophy / Q000473:pathology
chemical_list: C113133:BEST1 protein, human; D000075002:Bestrophins; D018118:Chloride Channels; D005136:Eye Proteins
keywords: Autosomal recessive bestrophinopathy; BEST1; Electro-oculography (EOG); Fundus autofluorescence