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Mutations in the VMD2 gene are associated with juvenile-onset vitelliform macular dystrophy (Best disease) and adult vitelliform macular dystrophy but not age-related macular degeneration

Recently, the VMD2 gene has been identified as the causative gene in juvenile-onset vitelliform macular dystrophy (Best disease), a central retinopathy primarily characterised by an impaired function of the retinal pigment epithelium. In this study we have further characterised the spectrum of VMD2...

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Main Authors: Krämer, Franziska (Author) , White, Karen (Author) , Pauleikhoff, Daniel (Author) , Gehrig, Andrea (Author) , Passmore, Lori (Author) , Rivera, Andrea (Author) , Rudolph, Günther (Author) , Kellner, Ulrich (Author) , Andrassi, Monika (Author) , Lorenz, Birgit (Author) , Rohrschneider, Klaus (Author) , Blankenagel, Anita (Author) , Jurklies, Bernhard (Author) , Schilling, Harald (Author) , Schütt, Florian (Author) , Holz, Frank G. (Author) , Weber, Bernhard HF (Author)
Format: Article (Journal)
Language:English
Published: [2000]
In: European journal of human genetics
Year: 2000, Volume: 8, Issue: 4, Pages: 286-292
ISSN:1476-5438
DOI:10.1038/sj.ejhg.5200447
Online Access:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1038/sj.ejhg.5200447
Verlag, lizenzpflichtig, Volltext: https://www.nature.com/articles/5200447
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Author Notes:Franziska Krämer, Karen White, Daniel Pauleikhoff, Andrea Gehrig, Lori Passmore, Andrea Rivera, Günther Rudolph, Ulrich Kellner, Monika Andrassi, Birgit Lorenz, Klaus Rohrschneider, Anita Blankenagel, Bernhard Jurklies, Harald Schilling, Florian Schütt, Frank G. Holz and Bernhard HF Weber

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245 1 0 |a Mutations in the VMD2 gene are associated with juvenile-onset vitelliform macular dystrophy (Best disease) and adult vitelliform macular dystrophy but not age-related macular degeneration  |c Franziska Krämer, Karen White, Daniel Pauleikhoff, Andrea Gehrig, Lori Passmore, Andrea Rivera, Günther Rudolph, Ulrich Kellner, Monika Andrassi, Birgit Lorenz, Klaus Rohrschneider, Anita Blankenagel, Bernhard Jurklies, Harald Schilling, Florian Schütt, Frank G. Holz and Bernhard HF Weber 
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520 |a Recently, the VMD2 gene has been identified as the causative gene in juvenile-onset vitelliform macular dystrophy (Best disease), a central retinopathy primarily characterised by an impaired function of the retinal pigment epithelium. In this study we have further characterised the spectrum of VMD2 mutations in a series of 41 unrelated Best disease patients. Furthermore we expanded our analysis to include 32 unrelated patients with adult vitelliform macular dystrophy (AVMD) and 200 patients with age-related macular degeneration (AMD). Both AVMD and AMD share some phenotypic features with Best disease such as abnormal subretinal accumulation of lipofuscin material, progressive geographic atrophy and choroidal neovascularisation, and may be the consequence of a common pathogenic mechanism. In total, we have identified 23 distinct disease-associated mutations in Best disease and four different mutations in AVMD. Two of the mutations found in the AVMD patients were also seen in Best disease suggesting a considerable overlap in the aetiology of these two disorders. There were no mutations found in the AMD group. In addition, four frequent intragenic polymorphisms did not reveal allelic association of the VMD2 locus with AMD. These data exclude a direct role of VMD2 in the predisposition to AMD. 
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