Abstract Listings 2024

Purpose

This case report aims to present the diagnostic and management approach for a suspected de Morsier syndrome.

Methods

A 6-year-old boy presented with his mother due to concerns regarding his vision for a number of years. NO significant refractive error has been found but has undergone one cycloplegic refraction. His mother was concerns he has fallen behind in school and generally struggles to see. There was bilateral unexplained reduced visual acuities and significant esophoria. His visual acuity is 0.3 in the right eye and 0.5 in the left eye with logMAR without glasses. A cyclorefraction reveals that the patient has very mild hypermetropia about +0.5 dipotre sphere in both eyes. Anterior segment examination was within normal limits. Fundus examination showed bilateral optic nerve hypoplasia. Ocular motility is full in all directions. Cover test orthophoric.

Results

An MRI brain has been done however due to movement artefacts he is awaiting an MRI brain under general anaesthesia at present. We have also requested for VEP and ERG. Discussions about possibility of needing hormone therapy and occupational therapy has been made with parents

Conclusion

Septo-optic dysplasia previously known as de Morsier syndrome is a condition characterised by the triad of optic nerve hypoplasia, pituitary endocrine dysfunction and absence of corpus callosum. Early diagnosis of SOD is crucial due to its potential for prevention. These patients would need life-long multidisciplinary team management to optimise their development as a child.

Additional Authors

↑ Back to top