Abstract

Study design: A case report
Purpose: To report a case of de Morsier’s syndrome (septo-optic dysplasia)
Methods: A 14 year-old girl presenting with horizontal nystagmus and esotropia OS had BCVA of 6/9 OD and CFCF with RAPD OS. Both eyes had pale hypoplastic optic disc, double ring sign and disc diameter : disc-macula distance of 0.33:1. Colour vision, contrast sensitivity and VEP were defective and unrecordable OS and increased P100 latency OD. CE-MRI brain showed absent septum pellucidum, flattening of roof of frontal horn of lateral ventricles with pointing of inferior margins and hypoplastic optic nerves and optic chiasmata. A diagnosis of de Morsier’s syndrome (septo-optic dysplasia) was made based on the presence optic nerve hypoplasia and midline brain defects. The patient is on follow up with neurological and endocrinal assessments done at each visit.
Conclusion: de Morsier’s Syndrome is a rare disease which ophthalmologists must be aware of.