Unilateral congenital glaucoma may be the earliest presenting sign of orbitofacial neurofibromatosis and intracranial lesions: a case series

Purpose The aim was to report a number of cases initially presenting with unilateral congenital glaucoma within the first year of life that subsequently were found to be associated with the orbitofacial variant of neurofibromatosis-1 (NF1) as well as with variable intracranial lesions. Patients and methods The records of 340 patients presenting with unilateral congenital glaucoma were retrospectively reviewed to identify patients who subsequently developed orbitofacial NF ipsilateral to the glaucoma or other manifestations of NF1. All clinical, radiological, or histopathological data for enucleated globes, if available, were reviewed. Results Seven patients were identified with a mean age at presentation of 4.3±5.4 months. They presented with unilateral buphthalmos and high intraocular pressure with subtle proptosis and/or lid swelling. The mean age at NF1 diagnosis was 23.14±18.5 months. Initial imaging reports were either read as ‘normal’ or described a lesion near the cavernous sinus (CS): CS thrombosis, clival meningioma, histiocytosis, carotid cavernous fistula, or CS hemangioma. Once the diagnosis of NF1 was made, subsequent imaging studies (computed tomography and/or MRI) showed a defect at the greater wing of sphenoid bone (all patients); neurofibroma involving the CS, orbit, and nearby intracranial and subcutaneous structures to varying degrees (all patients); and hamartomas at the level of the basal ganglia (six patients). Associated intracranial lesions were sphenoid wing meningioma, optic nerve glioma, and trigeminal schwannoma. Histopathology of two enucleated eyes showed glaucomatous changes with prominent ciliochoroidal hyperplasia in one case and a ciliary body schwannoma in another. Conclusion In newborns with unilateral congenital glaucoma, the differential diagnosis should include NF1. Targeted radiologic examinations may reveal diagnostic signs and decrease disease morbidity. The glaucoma surgeon may opt for earlier aggressive intervention in this potentially blinding disease.