ArticleJournal of clinical and diagnostic research : JCDR2016
Neurofibromatosis Type 1 Presenting with Ophthalmic Features: A Case Series.
Article in Journal of clinical and diagnostic research : JCDR, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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Who cites it
2 citing papers in PubMed, 8 citations in OpenAlex.
- Clinical Phenotypic Spectrum and Multisystem Burden in Neurofibromatosis Type 1: A Retrospective Regional Cohort Study.Biomedicines · 2026Article
- Solitary neurofibroma of eyelid masquerading as chalazion.International medical case reports journal · 2017Article
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Authors and funding
5 authors at 1 institution in 1 country.
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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.
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