Neurofibromatosis Type 1 Associated Unilateral Pediatric Glaucoma and Proptosis—A Case Report

US Ophthalmic Review, 2016;9(2):110–3 DOI:


Neurofibromatosis (NF) is a rare condition characterized by hamartomas of neural crest origin. NF is divided into NF type 1 (NF1) and NF type 2 (NF2) based on clinical features. We report a case of a 10-year-old Indian male who presented with NF1 along with unilateral pediatric glaucoma and eye globe enlargement. Pediatric glaucoma association with NF1 further adds rarity the disease.
Keywords: Neurofibromatosis, pediatric glaucoma, proptosis
Disclosure: Sudhir Singh and Ananda B have nothing to disclose in relation to this article. No funding was received for the publication of this article.
Compliance with Ethics Guidelines: Informed consent was receieved from the parent's of the patient involved in this study. Permission for use of the images was also granted.
Open Access: This article is published under the Creative Commons Attribution Noncommercial License, which permits any noncommercial use, distribution, adaptation, and reproduction provided the original author(s) and source are given appropriate credit.
Received: July 12, 2016 Accepted September 13, 2016
Correspondence: Sudhir Singh, Senior Consultant & HOD, JW Global Hospital Research Centre, Mount Abu, India, 302019. E:

A 10-year-old Indian male with short stature and skeletal deformities presented. Height 120 cm; blood pressure normal. There were multiple café au lait spots of more than 5 mm on the thorax, abdomen, and back skin (see Figure 1). Axillary and inguinal freckling was absent. The left side of the face had hypertrophic deformity due to the plexiform neurofibroma in the maxillary and mandibular region (see Figure 2C). The left upper eyelid had an S-shaped deformity and ptosis (see Figure 2A). On palpation it felt worm-like, consistent with the plexiform neurofibroma. There was marked proptosis and globe enlargement of the left eye (see Figure 2B and 3).The axial lengths of the right and left eye globe were 22.19 mm and 27.99 mm, respectively. The left eye corneal horizontal and vertical diameters were 13 mm each; the right eye corneal horizontal and vertical diameters were 11 mm each. The best corrected visual acuities of the right and left eye were 20/20 and 20/100, respectively. Extra ocular motility was normal. The right and left pupils were 3 mm and 6 mm, respectively. Afferent pupillary defect was noted in the left eye. Intraocular pressure (IOP) in the right eye and left eye were 12 mmHg and 28 mmHg, respectively. The right eye fundus examination was normal. The left eye fundus examination showed advanced glaucomatous cupping (see Figure 4).

Radiologic investigation
A computed tomography (CT) scan and x-ray of the head and orbit were carried out to investigate a possible optic nerve, orbital, or intracranial involvement.

A skull PA x-ray and lateral view showed an enlarged left orbit with distortion of greater and lesser wings of left sphenoid bone secondary to dysplasia/hyperplasia. The central bony orbit also showed altered to poorly appreciated bony landmarks, thus giving the appearance of bare orbit (bare orbit sign) (see Figure 5).

Computed tomography brain
scan A CT brain scan showed absent to hypoplastic greater wing and, to some extent, lesser wing of left sphenoid bone with resultant direct communication of soft tissues of orbit with the left temporal fossa (see Figure 6).

Coronal reformatted bone window images of the anterior skull base showed absent sphenoid wings (see Figure 7).

There was mild abnormal dilatation of the left lateral ventricle with square box appearance of frontal horn. The rest of the ventricles appear unremarkable. No obvious periventricular ooze was seen. There was small curvilinear cerebrospinal fluid density, extra axial cystic lesion seen anterior to left temporal lobe without mass effect, or midline shift consistent with arachnoid cyst (see Figure 8).

There was gross left proptosis with a relatively enlarged left globe; however, the left globe was normal in shape and attenuation. Ill-defined extra conal soft tissue was noted in the left orbit. Therefore, it was considered that the presence of a neurofibroma was causing proptosis of the left eye globe. Three-dimensional (3D) CT volume rendered technology images of the skull showed an enlarged left orbit with deficient postero-superior wall of the left orbit consistent with absent to hypoplastic sphenoid wing (see Figure 9).

1. Riccardi VM, Neurofibromatosis: past, present and future, N Engl J Med, 1991;324:1238–85.
2. NIH Consensus Development Conference Neurofibromatosis. Conference statement, Arch Neurol,1988;45:575–8.
3. Morales J, Imtiaz AC, Bosley TM, Glaucoma and globe enlargement associated with neurofibromatosis type 1, Ophthalmology, 2009;116:1725–30.
4. Grant WM, Walton DS. Distinctive gonioscopic findings in glaucoma due to neurofibromatosis, Arch Ophthalmol, 1968;79:127–34.
Keywords: Neurofibromatosis, pediatric glaucoma, proptosis