Frequency, genotype, and clinical spectrum of best vitelliform macular dystrophy: data from a national center in Denmark

Hanna Bitner; Patrik Schatz; Liliana Mizrahi-Meissonnier; Dror Sharon; Thomas Rosenberg

doi:10.1016/j.ajo.2012.02.036

Frequency, genotype, and clinical spectrum of best vitelliform macular dystrophy: data from a national center in Denmark

Hanna Bitner, Patrik Schatz, Liliana Mizrahi-Meissonnier, Dror Sharon, Thomas Rosenberg

62 Citations (Scopus)

Abstract

To estimate the prevalence, genotype, and clinical spectrum of Best vitelliform macular dystrophy (Best disease).

Original language	English
Journal	American Journal of Ophthalmology
Volume	154
Issue number	2
Pages (from-to)	403-412.e4
ISSN	0002-9394
DOIs	https://doi.org/10.1016/j.ajo.2012.02.036
Publication status	Published - 2012

Keywords

Adult
Age of Onset
Aged
Child
Chloride Channels
DNA Mutational Analysis
Denmark
Electroretinography
Eye Proteins
Female
Fluorescein Angiography
Gene Frequency
Genotype
Humans
Male
Middle Aged
Molecular Biology
Molecular Epidemiology
Mutation, Missense
National Health Programs
Pedigree
Prevalence
Retrospective Studies
Tomography, Optical Coherence
Vitelliform Macular Dystrophy

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10.1016/j.ajo.2012.02.036

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title = "Frequency, genotype, and clinical spectrum of best vitelliform macular dystrophy: data from a national center in Denmark",

abstract = "To estimate the prevalence, genotype, and clinical spectrum of Best vitelliform macular dystrophy (Best disease).",

keywords = "Adult, Age of Onset, Aged, Child, Chloride Channels, DNA Mutational Analysis, Denmark, Electroretinography, Eye Proteins, Female, Fluorescein Angiography, Gene Frequency, Genotype, Humans, Male, Middle Aged, Molecular Biology, Molecular Epidemiology, Mutation, Missense, National Health Programs, Pedigree, Prevalence, Retrospective Studies, Tomography, Optical Coherence, Vitelliform Macular Dystrophy",

author = "Hanna Bitner and Patrik Schatz and Liliana Mizrahi-Meissonnier and Dror Sharon and Thomas Rosenberg",

year = "2012",

doi = "10.1016/j.ajo.2012.02.036",

language = "English",

volume = "154",

pages = "403--412.e4",

journal = "American Journal of Ophthalmology",

issn = "0002-9394",

publisher = "Elsevier Inc.",

number = "2",

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TY - JOUR

T1 - Frequency, genotype, and clinical spectrum of best vitelliform macular dystrophy

T2 - data from a national center in Denmark

AU - Bitner, Hanna

AU - Schatz, Patrik

AU - Mizrahi-Meissonnier, Liliana

AU - Sharon, Dror

AU - Rosenberg, Thomas

PY - 2012

Y1 - 2012

N2 - To estimate the prevalence, genotype, and clinical spectrum of Best vitelliform macular dystrophy (Best disease).

AB - To estimate the prevalence, genotype, and clinical spectrum of Best vitelliform macular dystrophy (Best disease).

KW - Adult

KW - Age of Onset

KW - Aged

KW - Child

KW - Chloride Channels

KW - DNA Mutational Analysis

KW - Denmark

KW - Electroretinography

KW - Eye Proteins

KW - Female

KW - Fluorescein Angiography

KW - Gene Frequency

KW - Genotype

KW - Humans

KW - Male

KW - Middle Aged

KW - Molecular Biology

KW - Molecular Epidemiology

KW - Mutation, Missense

KW - National Health Programs

KW - Pedigree

KW - Prevalence

KW - Retrospective Studies

KW - Tomography, Optical Coherence

KW - Vitelliform Macular Dystrophy

UR - https://www.scopus.com/pages/publications/84866430841

U2 - 10.1016/j.ajo.2012.02.036

DO - 10.1016/j.ajo.2012.02.036

M3 - Journal article

C2 - 22633354

SN - 0002-9394

VL - 154

SP - 403-412.e4

JO - American Journal of Ophthalmology

JF - American Journal of Ophthalmology

IS - 2

ER -

Frequency, genotype, and clinical spectrum of best vitelliform macular dystrophy: data from a national center in Denmark

Abstract

Keywords

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