Septo-optic dysplasia.

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.

• Authors: M A Fard, W Y Wu-Chen, B L Man, N R Miller
• Journal: Pediatric endocrinology reviews : PER (Pediatr Endocrinol Rev) Vol. 8 Issue 1 Pg. 18-24 (Sep 2010) ISSN: 1565-4753 [Print] Israel
• PMID: 21037540 (Publication Type: Journal Article, Review)

Chemical References

• HESX1 protein, human
• Homeodomain Proteins
• Adrenocorticotropic Hormone
• Thyrotropin
• Growth Hormone

Topics

• Adrenocorticotropic Hormone (deficiency)
• Child, Preschool
• Female
• Growth Hormone (deficiency)
• Homeodomain Proteins (genetics)
• Humans
• Hypopituitarism (genetics, physiopathology, therapy)
• Infant
• Male
• Optic Nerve (abnormalities, physiopathology)
• Septo-Optic Dysplasia (diagnosis, genetics, physiopathology, therapy)
• Septum Pellucidum (abnormalities, physiopathology)
• Thyrotropin (deficiency)
• Visual Acuity (physiology)