PMID- 27071392
OWN - NLM
STAT- MEDLINE
DCOM- 20170503
LR  - 20181202
IS  - 1573-2622 (Electronic)
IS  - 0012-4486 (Print)
IS  - 0012-4486 (Linking)
VI  - 132
IP  - 3
DP  - 2016 Jun
TI  - Detailed analysis of family with autosomal recessive bestrophinopathy associated 
      with new BEST1 mutation.
PG  - 233-43
LID - 10.1007/s10633-016-9540-3 [doi]
AB  - PURPOSE: To describe the clinical and genetic findings in a patient with 
      autosomal recessive bestrophinopathy (ARB) and his healthy parents. METHODS: 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. RESULTS: 
      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. 
      CONCLUSIONS: 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.
FAU - Kubota, Daiki
AU  - Kubota D
AD  - Department of Ophthalmology, Nippon Medical School Chiba Hokusoh Hospital, 1715 
      Kamagari, Inzai, Chiba, 270-1694, Japan.
FAU - Gocho, Kiyoko
AU  - Gocho K
AD  - Department of Ophthalmology, Nippon Medical School Chiba Hokusoh Hospital, 1715 
      Kamagari, Inzai, Chiba, 270-1694, Japan.
FAU - Akeo, Keiichiro
AU  - Akeo K
AD  - Department of Ophthalmology, Nippon Medical School Chiba Hokusoh Hospital, 1715 
      Kamagari, Inzai, Chiba, 270-1694, Japan.
FAU - Kikuchi, Sachiko
AU  - Kikuchi S
AD  - Department of Ophthalmology, Nippon Medical School Chiba Hokusoh Hospital, 1715 
      Kamagari, Inzai, Chiba, 270-1694, Japan.
FAU - Sugahara, Michitaka
AU  - Sugahara M
AD  - Inoue Eye Clinic, 4-3 Surugadai, Kanda, Chiyoda-ku, Tokyo, 101-0062, Japan.
AD  - Sugahara Eye Clinic, 1-13-3, Minami-senju, Arakawa-ku, Tokyo, 116-0003, Japan.
FAU - Matsumoto, Celso Soiti
AU  - Matsumoto CS
AD  - Department of Ophthalmology, Teikyo University School of Medicine, 2-11-1 Kaga, 
      Itabashi-ku, Tokyo, 173-8605, Japan.
FAU - Shinoda, Kei
AU  - Shinoda K
AD  - Department of Ophthalmology, Teikyo University School of Medicine, 2-11-1 Kaga, 
      Itabashi-ku, Tokyo, 173-8605, Japan.
FAU - Mizota, Atsushi
AU  - Mizota A
AD  - Department of Ophthalmology, Teikyo University School of Medicine, 2-11-1 Kaga, 
      Itabashi-ku, Tokyo, 173-8605, Japan.
FAU - Yamaki, Kunihiko
AU  - Yamaki K
AD  - Department of Ophthalmology, Nippon Medical School Chiba Hokusoh Hospital, 1715 
      Kamagari, Inzai, Chiba, 270-1694, Japan.
FAU - Takahashi, Hiroshi
AU  - Takahashi H
AD  - Department of Ophthalmology, Nippon Medical School, 1-1-5 Sendagi, Bunkyo-ku, 
      Tokyo, 113-8602, Japan.
FAU - Kameya, Shuhei
AU  - Kameya S
AD  - Department of Ophthalmology, Nippon Medical School Chiba Hokusoh Hospital, 1715 
      Kamagari, Inzai, Chiba, 270-1694, Japan. shuheik@nms.ac.jp.
LA  - eng
PT  - Journal Article
DEP - 20160412
PL  - Netherlands
TA  - Doc Ophthalmol
JT  - Documenta ophthalmologica. Advances in ophthalmology
JID - 0370667
RN  - 0 (BEST1 protein, human)
RN  - 0 (Bestrophins)
RN  - 0 (Chloride Channels)
RN  - 0 (Eye Proteins)
RN  - Bestrophinopathy
SB  - IM
MH  - Adaptation, Ocular/physiology
MH  - Adult
MH  - Bestrophins
MH  - Chloride Channels/*genetics
MH  - DNA Mutational Analysis
MH  - Electrooculography
MH  - Electroretinography
MH  - *Eye Diseases, Hereditary/genetics/pathology/physiopathology
MH  - Eye Proteins/*genetics
MH  - Female
MH  - Fluorescein Angiography
MH  - Fundus Oculi
MH  - Heterozygote
MH  - Humans
MH  - Male
MH  - Middle Aged
MH  - Mutation
MH  - Ophthalmoscopy/methods
MH  - Parents
MH  - Phenotype
MH  - *Retina/pathology/physiopathology
MH  - *Retinal Diseases/genetics/pathology/physiopathology
MH  - Tomography, Optical Coherence
MH  - Visual Acuity
MH  - Vitelliform Macular Dystrophy/pathology
PMC - PMC4880638
OTO - NOTNLM
OT  - Autosomal recessive bestrophinopathy
OT  - BEST1
OT  - Electro-oculography (EOG)
OT  - Fundus autofluorescence
EDAT- 2016/04/14 06:00
MHDA- 2017/05/04 06:00
PMCR- 2016/04/12
CRDT- 2016/04/14 06:00
PHST- 2016/02/06 00:00 [received]
PHST- 2016/04/07 00:00 [accepted]
PHST- 2016/04/14 06:00 [entrez]
PHST- 2016/04/14 06:00 [pubmed]
PHST- 2017/05/04 06:00 [medline]
PHST- 2016/04/12 00:00 [pmc-release]
AID - 10.1007/s10633-016-9540-3 [pii]
AID - 9540 [pii]
AID - 10.1007/s10633-016-9540-3 [doi]
PST - ppublish
SO  - Doc Ophthalmol. 2016 Jun;132(3):233-43. doi: 10.1007/s10633-016-9540-3. Epub 2016 
      Apr 12.