An Episcleral Lesion in a Patient With Neurofibromatosis Type 1

Neurofibroma can present in a myriad of body tissues, including, very rarely, in the sclera; a unique presentation that is described herein. We describe a case of a 21-year-old man with neurofibromatosis type 1, who presented with 2 weeks of a blue-gray scleral discoloration overlying a protrusion of the sclera. His presentation was initially concerning for scleritis; however, histopathological analysis revealed an epibulbar neurofibroma. Recognition of rare manifestations of neurofibromatosis is essential to properly diagnose and manage ocular findings in this condition.

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Publication Details

Journal
Ophthalmic Plastic and Reconstructive Surgery
Published
2025-12-05
DOI
https://doi.org/10.1097/iop.0000000000003157
Primary Topic
Neurofibromatosis and Schwannoma Cases
Type
article
Field-Weighted Citation Impact
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article

An Episcleral Lesion in a Patient With Neurofibromatosis Type 1

Himani Goyal, Norman C. Charles, Jeffrey R. Sims, Rachel Babij et al.
Ophthalmic Plastic and Reconstructive Surgery
Neurofibromatosis and Schwannoma Cases
article

An Episcleral Lesion in a Patient With Neurofibromatosis Type 1

Himani Goyal, Norman C. Charles, Jeffrey R. Sims, Rachel Babij, Gabrielle Fridman
article en

Abstract

Neurofibroma can present in a myriad of body tissues, including, very rarely, in the sclera; a unique presentation that is described herein. We describe a case of a 21-year-old man with neurofibromatosis type 1, who presented with 2 weeks of a blue-gray scleral discoloration overlying a protrusion of the sclera. His presentation was initially concerning for scleritis; however, histopathological analysis revealed an epibulbar neurofibroma. Recognition of rare manifestations of neurofibromatosis is essential to properly diagnose and manage ocular findings in this condition.

Ophthalmic Plastic and Reconstructive Surgery
NYU Langone Health (US)
Openalex Percentile: Top 47%
Neurofibromatosis and Schwannoma Cases
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An Episcleral Lesion in a Patient With Neurofibromatosis Type 1 — Himani Goyal, Norman C. Charles, et al. · Ophthalmic Plastic and Reconstructive Surgery (2025) | TGRS Research Map | TGRS