PMID- 22633354
OWN - NLM
STAT- MEDLINE
DCOM- 20121016
LR  - 20220408
IS  - 1879-1891 (Electronic)
IS  - 0002-9394 (Linking)
VI  - 154
IP  - 2
DP  - 2012 Aug
TI  - Frequency, genotype, and clinical spectrum of best vitelliform macular dystrophy: 
      data from a national center in Denmark.
PG  - 403-412.e4
LID - 10.1016/j.ajo.2012.02.036 [doi]
AB  - PURPOSE: To estimate the prevalence, genotype, and clinical spectrum of Best 
      vitelliform macular dystrophy (Best disease). DESIGN: Retrospective epidemiologic 
      and clinical and molecular genetic observational study. METHODS: setting: 
      National referral center. participants: Forty-five individuals diagnosed with 
      Best disease. observation procedures: Retrospective review of patients diagnosed 
      according to clinical findings and sequencing of BEST1. Patients with recently 
      established molecular genetic diagnosis were followed up including multifocal 
      electroretinography (mfERG), spectral-domain optical coherence tomography 
      (SD-OCT), and fundus autofluorescence (FAF) imaging. main outcome measures:BEST1 
      mutations, SD-OCT and FAF findings, mfERG amplitudes, prevalence estimate of Best 
      disease. RESULTS: BEST1 mutations described previously in Danish patients with 
      Best disease are reviewed. In addition, we identified a further 8 families and 1 
      sporadic case, in whom 6 BEST1 missense mutations were found, 4 of which are 
      novel. The mutation c.904G>T (p.Asp302Asn) was identified in members of 4 
      unrelated families. Structural alterations ranged from precipitate-like 
      alterations at the level of the photoreceptor outer segments (OS) to choroidal 
      neovascularization. The extent of the former correlated with the reduction of 
      retinal function. A prevalence estimate of Best disease in Denmark based on the 
      number of diagnosed cases was 1.5 per 100 000 individuals. CONCLUSIONS: Our data 
      expand the mutation spectrum of BEST1 in patients with Best disease. Alterations 
      of the OS overlying lesions with subretinal fluid are similar to those seen in 
      central serous retinopathy and may indicate impaired turnover of OS. Our 
      frequency estimate confirms that Best disease is one of the most common causes of 
      early macular degeneration.
CI  - Copyright (c) 2012 Elsevier Inc. All rights reserved.
FAU - Bitner, Hanna
AU  - Bitner H
AD  - Department of Ophthalmology, Hadassah-Hebrew University Medical Center, 
      Jerusalem, Israel.
FAU - Schatz, Patrik
AU  - Schatz P
FAU - Mizrahi-Meissonnier, Liliana
AU  - Mizrahi-Meissonnier L
FAU - Sharon, Dror
AU  - Sharon D
FAU - Rosenberg, Thomas
AU  - Rosenberg T
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20120524
PL  - United States
TA  - Am J Ophthalmol
JT  - American journal of ophthalmology
JID - 0370500
RN  - 0 (BEST1 protein, human)
RN  - 0 (Bestrophins)
RN  - 0 (Chloride Channels)
RN  - 0 (Eye Proteins)
SB  - IM
MH  - Adult
MH  - Age of Onset
MH  - Aged
MH  - Bestrophins
MH  - Child
MH  - Chloride Channels/*genetics
MH  - DNA Mutational Analysis
MH  - Denmark/epidemiology
MH  - Electroretinography
MH  - Eye Proteins/*genetics
MH  - Female
MH  - Fluorescein Angiography
MH  - Gene Frequency
MH  - Genotype
MH  - Humans
MH  - Male
MH  - Middle Aged
MH  - Molecular Biology
MH  - Molecular Epidemiology
MH  - *Mutation, Missense
MH  - National Health Programs
MH  - Pedigree
MH  - Prevalence
MH  - Retrospective Studies
MH  - Tomography, Optical Coherence
MH  - Vitelliform Macular Dystrophy/*epidemiology/*genetics
EDAT- 2012/05/29 06:00
MHDA- 2012/10/17 06:00
CRDT- 2012/05/29 06:00
PHST- 2011/08/30 00:00 [received]
PHST- 2012/02/24 00:00 [revised]
PHST- 2012/02/28 00:00 [accepted]
PHST- 2012/05/29 06:00 [entrez]
PHST- 2012/05/29 06:00 [pubmed]
PHST- 2012/10/17 06:00 [medline]
AID - S0002-9394(12)00180-8 [pii]
AID - 10.1016/j.ajo.2012.02.036 [doi]
PST - ppublish
SO  - Am J Ophthalmol. 2012 Aug;154(2):403-412.e4. doi: 10.1016/j.ajo.2012.02.036. Epub 
      2012 May 24.