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Cohen Syndrome

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Inherited Chorioretinal Dystrophies

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Abstract

Cohen syndrome comprises multiple congenital anomalies with mental retardation, hypotonia, obesity, facial dysmorphism with protruding teeth, benign neutropenia and chorioretinal dystrophy. It has an autosomal recessive pattern of inheritance with variable expression [3] and was first described in a brother and sister in 1973 [2]. The affected gene, COH1, maps to 8q22 and encodes the VPS13B vacuolar protein involved in vesicular transportation [1, 18, 19].

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References

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Author information

Authors and Affiliations

  1. Service d’Exploration de la Vision et Neuro-ophtalmologie, Centre Hospitalier Universitaire de Lille, Hôpital Roger Salengro, Lille Cedex, 59037, France

    Bernard Puech

  2. Department of Ophthalmology, Ghent University Hospital, Ghent University, de Pintelaan 185, Ghent, B9000, Belgium

    Jean-Jacques De Laey

Authors
  1. Bernard Puech
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  2. Jean-Jacques De Laey
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Correspondence to Bernard Puech .

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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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Puech, B., De Laey, JJ. (2014). Cohen Syndrome. 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_22

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  • DOI: https://doi.org/10.1007/978-3-540-69466-3_22

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  • Print ISBN: 978-3-540-69464-9

  • Online ISBN: 978-3-540-69466-3

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