Septo-optic dysplasia

M. A. Fard, W. Y. Wu-Chen, B. L. Man, Niel R. Miller

Research output: Contribution to journalArticlepeer-review

14 Scopus citations

Abstract

Septo-optic dysplasia is a rare disorder characterized by optic nerve hypoplasia; midline developmental defects including agenesis of the septum pellucidum, thinning or absence of the corpus callosum, or both; and deficiencies of pituitary hormones. The majority of cases are sporadic but rare familial cases occur. The clinical manifestations include poor visual function in one or both eyes, developmental delay, seizures, sleep disturbances, and precocious puberty. A life-long multidisciplinary approach is crucial in the management of these patients to optimize their growth and development and to help them lead as normal lives as possible.

Original languageEnglish (US)
Pages (from-to)18-24
Number of pages7
JournalPediatric Endocrinology Reviews
Volume8
Issue number1
StatePublished - Sep 2010

Keywords

  • Agenesis of the corpus callosum
  • Hypopituitarism
  • Optic nerve hypoplasia
  • Septo-optic dysplasia
  • Septum pellucidum

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Endocrinology, Diabetes and Metabolism

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