Septo-Optic Dysplasia
[SOD/ De Morsier’s Syndrome]

Septo-optic dysplasia (SOD), also known as de Morsier syndrome, is a rare congenital malformation syndrome manifested by hypoplasia (underdevelopment) of the optic nerve, hypopituitarism, and absence of the septum pellucidum (a midline part of the brain). Septo-optic dysplasia is a highly variable disorder. In severe cases this results in pituitary hormone deficiencies, blindness, and mental retardation. However, there are milder degrees of each of the three problems, and some people only have one or two of the three.

The optic nerve hypoplasia is generally manifested by nystagmus (involuntary eye movements, often side-to-side) and a smaller-than-usual optic disk. The degree of visual impairment is variable, and ranges from normal vision to complete blindness. When nystagmus develops, it typically appears by 1-8 months of age, and usually indicates that there will be a significant degree of visual impairment, but the severity is difficult to predict in infancy. Although there are many measures to compensate for visual impairment, no treatment is available to induce normal optic nerve function.

The degree of pituitary deficiency is also variable, and ranges from normal function, to deficiency of a single hormone, to deficiency of both anterior and posterior hormones. Hypopituitarism in this syndrome is most often manifested by growth hormone deficiency. If severe, it can lead to diagnosis in the first days of life by causing hypoglycemia, jaundice, and micropenis (if a boy). All of the pituitary hormones can be replaced, and hormone replacement therapy is the treatment for any deficiencies. Septo-optic dysplasia is one of the most common forms of congenital growth hormone deficiency.

The brain effects are also variable and range from normal intelligence to severe mental retardation. Seizures sometimes occur. Prediction of intellectual outcome in infancy is difficult. Various types of early intervention or equivalent programs can help a child reach full developmental potential, but if brain impairment is significant, it cannot be made normal by any treatment.

Useful Links:

Septo-Optic Dysplasia Support Group Homepage
(http://www.focusfamilies.org/focus/)

Philip E. Rance II Foundation
(http://www2.umdnj.edu/forumweb/RANCE.htm)

The MAGIC Foundation for Children's Growth - Septo Optic Dysplasia Division
(http://www.magicfoundation.org/www/docs/101/septo-optic-dysplasia-optic-nerve-hypoplasia)

National Institute of Neurological Disorders and Stroke – Septo-Optic Dysplasia Information Page
(http://www.ninds.nih.gov/disorders/septo_optic_dysplasia/septo_optic_dysplasia.htm)

American Foundation for the Blind
(http://www.afb.org/)

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