Clinical Characteristics of Septo-optic Dysplasia

  Objective  To summarize the clinical characteristics of septo-optic dysplasia (SOD).

  Methods  The clinical data of 4 SOD patients who were admitted to our department from April 2009 to December 2012 were retrospectively analyzed. The diagnosis was based on comprehensive clinical evaluations including ophthalmological examination, brain magnetic resonance imaging (MRI) and laboratory tests. All 4 patients were followed up.

  Results  All 4 patients had bilateral optic nerve dysplasia, severe visual impairment and nystagmus. One patient had short stature, seizures, mental retardation, nystagmus and insulin-like growth factor 1 (IGF-1) deficiency. The other 3 patients had development retardation. On the brain MRI, one patient showed blurred pituitary structure, thin optic nerves and optic chiasm. Midline brain defects, including absence of corpus callosum brain dysplasia, agenesis of corpus callosum and dilation of ventricular system were observed in the other patients.

  Conclusions  Severe visual impairment, optic nerve dysplasia, midline brain defects, pituitary endocrine dysfunction and development retardation are the main clinical characteristics of SOD.