title: Neurofibromatosis Type 1 Presenting with Ophthalmic Features: A Case Series.
abstract: Neurofibromatosis type 1 (NF-1) is an autosomal dominant disorder involving multiple systems and affects approximately 1 out of 3000 persons. Ocular manifestations are lisch nodules, plexiform neurofibroma, optic pathway gliomas. The proper diagnosis of NF-1 is a crucial task for a clinician due to the various clinical manifestations including vision and life threatening malignancies in few patients, which may arise in the different phases of life. The authors report three cases of NF-1, presenting with ophthalmic symptoms in teenager boys. On further ophthalmic and paediatric evaluation the diagnosis of NF-1 was confirmed on the basis of clinical criteria. This series also describe the abnormal facial features like telecanthus and broad nose which has been reported rarely. Case 1 was kept under regular follow-up and Case 2 and Case 3 were planned for the debulking surgery for plexiform neurofibroma of upper eye lid. A multidisciplinary approach is required to diagnose and treat such patients keeping in mind the myriad of clinical manifestations and life-long follow-up is required.
authors.affiliation: Senior Resident, Department of Paediatrics, Uttar Pradesh University of Medical Sciences , Etawah, Uttar Pradesh, India .
authors.forename: Gunjan
authors.initials: G
authors.lastname: Jain
authors.affiliation: Assistant Professor, Department of Ophthalmology, Uttar Pradesh University of Medical Sciences , Etawah, Uttar Pradesh, India .
authors.forename: Vaibhav Kumar
authors.initials: VK
authors.lastname: Jain
authors.affiliation: Professor, Department of Paediatrics, Uttar Pradesh University of Medical Sciences , Etawah, Uttar Pradesh, India .
authors.forename: Indra Kumar
authors.initials: IK
authors.lastname: Sharma
authors.affiliation: Assistant Professor, Department of Ophthalmology, Uttar Pradesh University of Medical Sciences , Etawah, Uttar Pradesh, India .
authors.forename: Reena
authors.initials: R
authors.lastname: Sharma
authors.affiliation: Junior Resident, Department of Ophthalmology, Uttar Pradesh University of Medical Sciences , Etawah, Uttar Pradesh, India .
authors.forename: Neeraj
authors.initials: N
authors.lastname: Saraswat
keywords: Lisch nodule; Plexiform neurofibroma; Telecanthus