Abstract
Introduction: Septo-optic dysplasia is a congenital disease characterized by hypoplasia of one or both optic nerves accompanied by cerebral malformations of the midline and hypothalamic-pituitary dysfunction.
Objective: to present an illustrative case of a patient with anophthalmia and delayed psychomotor development, with emphasis on the differential diagnosis.
Case: A female 18 month old infant with bilateral anophthalmia associated with absence of the development of the optic nerves and hypoplasia of the septum pellucidum, confirmed by CT, and with a normal kariotype.
Conclusion: An extreme sporadic De Morsier syndrome case with septo-optic dysplasia without neurological or endocrine manifestations.
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