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Autosomal Dominant Drusen

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Inherited Chorioretinal Dystrophies

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Abstract

Autosomal dominant drusen is a dominantly inherited maculopathy first described by Doyne in 1899 [1]. The condition is characterised by macular drusen and is associated with slowly progressive loss of central visual acuity. A single heterozygous missense mutation (p.Arg345Trp) in the EFEMP1 (EGF-containing fibulin-like extracellular matrix protein 1) gene encoding fibulin-3 is responsible for the autosomal dominant drusen phenotype in all patients and families so far reported [2].

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References

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Authors and Affiliations

  1. UCL Institute of Ophthalmology, 11-43 Bath Street, London, EC1V 9EL, UK

    Eva Lenassi & Andrew R. Webster

  2. Moorfields Eye Hospital, City Road, London, EC1V 2PD, UK

    Eva Lenassi & Andrew R. Webster

Authors
  1. Eva Lenassi
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  2. Andrew R. Webster
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Corresponding author

Correspondence to Andrew R. Webster .

Editor information

Editors and Affiliations

  1. Service d’Exploration de la Vision et Neuro-ophtalmologie, Centre Hospitalier Universitaire de Lille, Hôpital Roger Salengro, Lille Cedex, France

    Bernard Puech

  2. Department of Ophthalmology, Ghent University Hospital, Ghent University, Ghent, Belgium

    Jean-Jacques De Laey

  3. Department of Electrophysiology, Moorfields Eye Hospital, London, United Kingdom

    Graham E. Holder

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© 2014 Springer-Verlag Berlin Heidelberg

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Lenassi, E., Webster, A.R. (2014). Autosomal Dominant Drusen. In: Puech, B., De Laey, JJ., Holder, G. (eds) Inherited Chorioretinal Dystrophies. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-540-69466-3_32

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  • DOI: https://doi.org/10.1007/978-3-540-69466-3_32

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  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-540-69464-9

  • Online ISBN: 978-3-540-69466-3

  • eBook Packages: MedicineMedicine (R0)

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