Septo-optic Dysplasia

Eur J Hum Genet. 2010 Apr;18(4):393-7. doi: 10.1038/ejhg.2009.125. Epub 2009 Jul 22.


This review summarises the key clinical features of septo-optic dysplasia (SOD), the significant inroads that progress in genetics has made into our understanding of the aetiology of the condition over the last decade, and the pitfalls and challenges that we face in the management of these phenotypically variable patients.

Publication types

  • Review

MeSH terms

  • Humans
  • Septo-Optic Dysplasia* / diagnosis
  • Septo-Optic Dysplasia* / genetics
  • Septo-Optic Dysplasia* / therapy