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Riley-Day Syndrome (Familial Dysautonomia)

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Encyclopedia of Ophthalmology

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Synonyms

Hereditary sensory and autonomic neuropathy (HSAN) III

Definition

A hereditary sensory autonomic neuropathy primarily affecting the sympathetic nervous system.

Etiology

Familial dysautonomia is an autosomal recessive disorder found predominantly in the Ashkenazi Jewish population. It is due to a mutation in the IkB kinase-associated protein (IKBKAP) gene which codes for the IKAP/hELP1 protein on the 9q31-q33 locus. This leads to the downregulation of genes involved in the expression of neurotransmitters critical for the development, differentiation, and survival of unmyelinated and small myelinated peripheral sensory and autonomic neurons. The sympathetic afferent and efferent pathways are both involved leading to impaired transmission of baroreceptor, visceral, and chemoreceptor information. There may also be a reduced number of parasympathetic ganglion cell complexes.

Clinical Presentation

Signs and symptoms of familial dysautonomia appear early in life and are generally...

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Further Reading

  • Daroff RB, Fenichel GM, Jankovic J, and Mazziotta JC (2012) Bradley’s neurology in clinical practice, 6th edn. Saunders, an Imprint of Elsevier, pp 201–145. Chapter 77

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  • Goetz CG (2007) Textbook of clinical neurology, 3rd edn. Saunders, an Imprint of Elsevier, pp 383–404. Chapter 21

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  • Hoyt CS, Taylor D (2013) Pediatric ophthalmology and strabismus, 4th edn. Elsevier, pp 310–322. Chapter 33

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  • Kliegman RM, Stanton BF, St. Geme JW, Schor NF, Behrman RE (2011) Nelson textbook of pediatrics, 19th edn. Saunders, an Imprint of Elsevier, pp 2141–2143. Chapter 607

    Google Scholar 

  • Swaiman K, Ashwal S, Ferriero DM, and Ferriero D (2012) Swaiman’s pediatric neurology: principles and practice, 5th edn. Elsevier, pp 1703–1719. Chapter 98

    Google Scholar 

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Author information

Authors and Affiliations

  1. Department of Ophthalmology, Euclid Hospital, Cole Eye Institute, Cleveland Clinic Foundation, 6770 Mayfield Road, Cleveland, OH, USA

    Mona Kaleem

Authors
  1. Mona Kaleem
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Corresponding author

Correspondence to Mona Kaleem .

Editor information

Editors and Affiliations

  1. Dept of Ophthal & Optometry,AKH, Medical University of Wien Dept of Ophthal & Optometry,AKH, Wien, Austria

    Ursula Schmidt-Erfurth

  2. Department of Ophthalmology, Goethe University of Frankfurt am Main Department of Ophthalmology, Frankfurt am Main, Germany

    Thomas Kohnen

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© 2014 Springer-Verlag Berlin Heidelberg

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Kaleem, M. (2014). Riley-Day Syndrome (Familial Dysautonomia). In: Schmidt-Erfurth, U., Kohnen, T. (eds) Encyclopedia of Ophthalmology. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-35951-4_882-1

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  • DOI: https://doi.org/10.1007/978-3-642-35951-4_882-1

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  • Publisher Name: Springer, Berlin, Heidelberg

  • Online ISBN: 978-3-642-35951-4

  • eBook Packages: Springer Reference MedicineReference Module Medicine

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