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Best Vitelliform Macular Dystrophy

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Macular Dystrophies

Abstract

Best vitelliform macular dystrophy (Best VMD) also called Best disease is a clinically heterogeneous and pleomorphic disease, in most cases showing an autosomal dominant pattern of inheritance with extremely variable penetrance and expressivity. In most cases, patients harbour heterozygous mutation in BEST1 gene, coding for a protein acting as a Ca2+-activated Cl− channel. In most cases the disease begins in the first decade of life. Five stages based on fundus examination have been described: each stage is also characterized by typical spectral-domain optical coherence tomography (SD-OCT) and fundus autofluorescence (FAF) signs. BEST1 gene is also related to other diseases, called bestrophinopathies.

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Authors and Affiliations

  1. Department of Ophthalmology, Centre Hospitalier Intercommunal de Creteil, University Paris Est Creteil, Creteil, France

    Jennyfer Zerbib MD, Eric H. Souied MD, PhD & Giuseppe Querques MD, PhD

  2. Department of Ophthalmology, IRCCS San Raffaele Scientific Institute, University Vita-Salute San Raffaele, Milan, Italy

    Giuseppe Querques MD, PhD

Authors
  1. Jennyfer Zerbib MD
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  2. Eric H. Souied MD, PhD
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  3. Giuseppe Querques MD, PhD
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Correspondence to Giuseppe Querques MD, PhD .

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Editors and Affiliations

  1. University Paris Est Créteil, Créteil, France

    Giuseppe Querques

  2. Ophthalmology, University Paris Est Créteil, Créteil, France

    Eric H. Souied

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Zerbib, J., Souied, E.H., Querques, G. (2016). Best Vitelliform Macular Dystrophy. In: Querques, G., Souied, E. (eds) Macular Dystrophies. Springer, Cham. https://doi.org/10.1007/978-3-319-26621-3_1

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  • DOI: https://doi.org/10.1007/978-3-319-26621-3_1

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  • Publisher Name: Springer, Cham

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