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Inherited Stationary Disorders of the Retina

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Inherited Chorioretinal Dystrophies

Abstract

Inherited stationary disorders of the retina are a heterogeneous group of congenital hereditary nonprogressive conditions that may result from abnormal function of the photoreceptor cells, disordered visual signal transmission from the photoreceptor to the inner retina, or may result from abnormal retinal development. The disorders are classified clinically on the basis of whether the rod system or cone system is predominantly affected and whether the retinal appearance is normal or abnormal. The molecular defects of most of these disorders have now been identified and there is a strong genotype/phenotype correlation. Thus, a more accurate classification based on the molecular pathology is now possible. In this chapter, we will however use a classification based on the clinical phenotype as it is in common usage.

An erratum to this chapter can be found at http://dx.doi.org/10.1007/978-3-540-69466-3_54

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Authors and Affiliations

  1. INSERM, U968, Paris, 75012, France

    Isabelle Audo

  2. CNRS, UMR_7210, Paris, 75012, France

    Isabelle Audo

  3. Institut de la Vision, Sorbonne Universités, UPMC Univ Paris 06, UMR_S 968, Paris, 75012, France

    Isabelle Audo

  4. Centre Hospitalier National d’Ophtalmologie des Quinze-Vingts, INSERM-DHOS CIC 1423, Paris, 75012, France

    Isabelle Audo

  5. Department of Electrophysiology, Moorfields Eye Hospital, City Road, London, EC1V 2PD, UK

    Graham E. Holder & Anthony T. Moore

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

    Graham E. Holder & Anthony T. Moore

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  1. Isabelle Audo
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  3. Anthony T. Moore
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Correspondence to Isabelle Audo .

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  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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Audo, I., Holder, G.E., Moore, A.T. (2014). Inherited Stationary Disorders of the Retina. 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_8

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  • DOI: https://doi.org/10.1007/978-3-540-69466-3_8

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  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-540-69464-9

  • Online ISBN: 978-3-540-69466-3

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