Session: Poster session C

Esotropia as a first manifestation of Neurofibromatosis type 2 - a case report

Lea Donata GRAUHAN¹, Heike ELFLEIN¹, Norbert PFEIFFER¹, Nils Friedrich GRAUHAN²

¹Department of Ophthalmology, University Medical Center Mainz, Mainz, Germany
²Department of Neuroradiology, University Medical Center Mainz, Mainz, Germany

Introduction: A 13-month-old girl presented with esotropia of the left eye. According to the parents, this had been the case for 10 months. There was no personal or family history of general or ophthalmogical disorders.

Methods: An orthoptic and ophthalmologic examination was performed for further clarification. Ophtalmoscopy revealed an abnormal optic disc on the left eye. Therefore, a neuropaediatric examination with cerebral magnetic resonance imaging and molecular genetic testing was initiated.

Results: The visual acuity on a preferential looking test was reduced on the left eye. Dilated cycloplegic refraction measured around +2 diopters. Cover testing revealed a left esotropia of + 3 to +10°. The limitation of abduction was 40-45° on both eyes. In the indirect ophthalmoscopy there was an affection of the optic disc anatomy. The cerebral magnetic resonance imaging confirmed an optic disc hamartoma. Finally, genetic testing confirmed a Neurofibromatosis type 2.

Conclusion: Any appearance of esotropia and reduced visual acuity in infants need proper ophthalmoscopy. The diagnosis of unilateral optic disc hamartoma must lead to multidisciplinary follow-up. This ensures that rare disease as Neurofibromatosis type 2 can be detected in an early stage.