BACKGROUND: Septo-optic dysplasia (SOD), also known as de-Morsier's syndrome, is 
a rare disorder characterized by any combination of optic nerve hypoplasia 
(ONH), pituitary gland hypoplasia, and midline abnormalities of the brain 
including absence of septum pellucidum and corpus callosum dysgenesis. It is 
typically diagnosed in infancy and has a variable presentation that includes 
visual, neurologic, and/or hypothalamic-pituitary endocrine deficits.
PURPOSE: To demonstrate the ophthalmic, endocrine, and neurologic spectrum of 
SOD in five Omani children and address the crucial role of high-resolution 
neuroimaging for its early and accurate diagnosis.
MATERIALS AND METHODS: A retrospective chart review was performed in 2010 of all 
children in the pediatric ophthalmology database of Sultan Qaboos University 
Hospital (SQUH) who were diagnosed to have ONH. All relevantdemographic, 
ophthalmic, neurologic, endocrine, and neuro-radiological manifestations were 
recorded in a data collection form. All previous neuroimaging results were 
reviewed by a neuro-radiologist.
RESULTS: Five patients (four males, one female) with the diagnosis of ONH were 
included in the study. They presented during the period 1998-2008. All patients 
were born at term, with normal birth weights to healthy mothers with 
insignificant antenatal history. Age at presentation ranged from three months to 
one year. Manifestations at presentation included severe visual impairment 
(5/5), neonatal hypoglycemia (3/5), seizure disorder (2/5), and failure to 
thrive (4/5). ONH was bilateral in 3/5 patients and unilateral in (2/5). Brain 
and orbit imaging revealed varying anomalies in all patients. These included 
absent septum pellucidum (3/5), severe corpus callosum agenesis (1/5), ectopic 
pituitary (5/5), falx cerebri deficiency (1/5), optic nerve hypoplasia (5/5), 
optic chiasmal hypoplasia (5/5), and olfactory tract hypoplasia (1/5). Endocrine 
deficits were detected in 4/5 patients (3 with panhypopituitarism, and 1 with 
growth hormone deficiency) and necessitated replacement therapy.
CONCLUSION: SOD is a clinically heterogeneous disorder with a wide spectrum of 
ophthalmic, endocrine, and neurologic manifestations. All features might not be 
present in a single patient. A high consanguinity rate and lack of history of 
alcohol and drug use were observed in our cohort. Most affected children present 
first to the pediatrician with failure to thrive. Radiological confirmation of 
ONH necessitates high-resolution imaging and interpretation by an experienced 
neuro-radiologist. In our cohort, all patients with ONH had associated optic 
chiasmal hypoplasia. Early detection and treatment reduces disease-related 
morbidity, and can be life saving.