Encyclopedia of Ophthalmology

Living Edition
| Editors: Ursula Schmidt-Erfurth, Thomas Kohnen

Riley-Day Syndrome (Familial Dysautonomia)

Living reference work entry
DOI: https://doi.org/10.1007/978-3-642-35951-4_882-1

Synonyms

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

  1. 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 77Google Scholar
  2. Goetz CG (2007) Textbook of clinical neurology, 3rd edn. Saunders, an Imprint of Elsevier, pp 383–404. Chapter 21Google Scholar
  3. Hoyt CS, Taylor D (2013) Pediatric ophthalmology and strabismus, 4th edn. Elsevier, pp 310–322. Chapter 33Google Scholar
  4. 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 607Google Scholar
  5. Swaiman K, Ashwal S, Ferriero DM, and Ferriero D (2012) Swaiman’s pediatric neurology: principles and practice, 5th edn. Elsevier, pp 1703–1719. Chapter 98Google Scholar

Copyright information

© Springer-Verlag Berlin Heidelberg 2014

Authors and Affiliations

  1. 1.Department of OphthalmologyEuclid Hospital, Cole Eye Institute, Cleveland Clinic FoundationClevelandUSA