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Original Research Glaucoma Neurofibromatosis Type 1 Associated Unilateral Pediatric Glaucoma and Proptosis—A Case Report Sudhir Singh 1 and Ananda B 2 1. Department of Ophthalmology; 2. Department of Radiology, JW Global Hospital & Research Centre, Mount Abu, Rajasthan, India N eurofibromatosis (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. Case Report Chief complaint 10-year-old Indian male presented with painless defective vision and left eye globe enlargement of 3 years' duration History of present 10-year-old Indian male presented in our outpatient department with painless defective Illness vision and eye globe enlargement of 3 years' duration. Patient could not previously attend hospital due to his poor socioeconomic status Ocular history Patient's mother described his medical history as follows: Patient had a normal face until about 2 years of age, whereafter his mother noticed disfigurement of the left eyelid and the left side of the face. Parents were unable to take him to hospital for treatment. Recently, a medical social worker visited this family and advised them to visit the hospital Medical history No history of hypertension and diabetes Received: 12 July, 2016 Medications None Accepted: 13 September, 2016 Family history No family history of such disease Citation: US Ophthalmic Review, 2016;9(2):110–3 Social history Active, well-adjusted primary school student Corresponding Author: Sudhir Singh, Senior Consultant & HOD, JW Global Hospital Research Centre, Mount Abu, India, 302019. E: [email protected]
Examination 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. 110 TOUCH ME D ICA L ME D IA