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Best’s Disease

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Manual of Retinal Diseases

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Abstract

Best vitelliform macular dystrophy (BVMD) due to to abnormal processing of photoreceptor outer segments and lipofuscin accumulation in RPE cells.

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References and Suggested Reading

  1. Boon CJF, Klevering BJ, Leroy BP, Hoyng CB, Keunen JEE, den Hollander AI. The spectrum of ocular phenotypes caused by mutations in the BEST1 gene. Prog Retin Eye Res. 2009;28:187–205.

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  2. Hartzell HC, Qu Z, Yu K, Xiao Q, Chien L. Molecular physiology of bestrophins: multifunctional membrane proteins linked to best disease and other retinopathies. Physiol Rev. 2008;88:639–72.

    Article  CAS  PubMed  Google Scholar 

  3. Marmorstein AD, Marmorstein LY, Rayborn M, Wang X, Hollyfield JG, Petrukhin K. Bestrophin, the product of the best vitelliform dystrophy gene (vmd2), localizes to the basolateral plasma membrane of the retinal pigment epithelium. Proc Natl Acad Sci U S A. 2000;97(23):12758–63.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  4. Xiao Q, Hartzell HC, Yu K. Bestrophins and retinopathies. Pflugers Arch. 2010;460(2):559–69.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

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Author information

Authors and Affiliations

  1. Department of Ophthalmology, Baylor College of Medicine, Texas Children’s Hospital, Houston, TX, USA

    Salman A. Rahman MD & Veeral S. Shah MD, PhD

Authors
  1. Salman A. Rahman MD
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  2. Veeral S. Shah MD, PhD
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Corresponding author

Correspondence to Veeral S. Shah MD, PhD .

Editor information

Editors and Affiliations

  1. Bascom Palmer Eye Institute, Miami, Florida, USA

    Carlos A. Medina

  2. Bascom Palmer Eye Institute, MIAMI, Florida, USA

    Justin H. Townsend

  3. Cleveland Clinic Foundation, Cole Eye Institute, Cleveland, Ohio, USA

    Arun D. Singh

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© 2016 Springer International Publishing Switzerland

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Rahman, S.A., Shah, V.S. (2016). Best’s Disease. In: Medina, C., Townsend, J., Singh, A. (eds) Manual of Retinal Diseases. Springer, Cham. https://doi.org/10.1007/978-3-319-20460-4_22

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  • DOI: https://doi.org/10.1007/978-3-319-20460-4_22

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  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-319-20459-8

  • Online ISBN: 978-3-319-20460-4

  • eBook Packages: MedicineMedicine (R0)

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