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

Septo-optic dysplasia

Emma A Webb  1 , Mehul T Dattani
Affiliations
Review

Septo-optic dysplasia

Emma A Webb et al. Eur J Hum Genet. 2010 Apr.

Abstract

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.

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Figures

Figure 1
Figure 1
Spectrum of severity of the triad of abnormalities found in septo-optic dysplasia and the variably associated clinical features.
Figure 2
Figure 2
MRI appearances of septo-optic dysplasia. (a) Anterior pituitary hypoplasia and absent infundibulum associated with bilateral optic nerve hypoplasia. The posterior pituitary is ectopic. There is an absence of the septum pellucidum. (b) Ectopic posterior pituitary, anterior pituitary hypoplasia, absence of the infundibulum and partial absence of the septum pellucidum associated with optic nerve hypoplasia. CC, corpus callosum; AP, anterior pituitary; PP, posterior pituitary; SP, septum pellucidum; OC, optic chiasm.
See this image and copyright information in PMC

References

    1. Patel L, McNally RJ, Harrison E, et al. Geographical distribution of optic nerve hypoplasia and septo-optic dysplasia in Northwest England. J Pediatr. 2006;148:85–88. - PubMed
    1. Lippe B, Kaplan SA, LaFranchi S. Septo-optic dysplasia and maternal age. Lancet. 1979;2:92–93. - PubMed
    1. Dattani MT, Martinez-Barbera JP, Thomas PQ, et al. Mutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouse. Nat Genet. 1998;19:125–133. - PubMed
    1. Kelberman D, Rizzoti K, Avilion A, et al. Mutations within Sox2/SOX2 are associated with abnormalities in the hypothalamo-pituitary-gonadal axis in mice and humans. J Clin Invest. 2006;116:2442–2455. - PMC - PubMed
    1. Kelberman D, de Castro SC, Huang S, et al. SOX2 plays a critical role in the pituitary, forebrain and eye during human embryonic development. J Clin Endocrinol Metab. 2008;93:1865–1873. - PMC - PubMed

Further reading

    1. The last four references (37–40) are for further references.

MeSH terms