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Bulgarian Review of Ophthalmology

Neurofibromatosis – diagnostic challenges

G. Balchev, Ch. Balabanov, S. Murgova


Neurofibromatosis is a rare disease and in its classical presentation is not difficult to diagnose, but when the clinical finding is not typical it becomes a diagnostic problem.

Aim: to present a clinical case of neurofibromatosis that was a diagnostic problem because of its atypical manifestation.

Clinical case description: one-year follow-up and treatment of a patient with neurofibromatosis at the UMHB Pleven Eye Clinic. The patient was treated initially for keratitis according to the clinical presentation and patient’s complaints. During the second visit complaints of double images and exophthalmos were reported. CAT showed tumor formation in the orbit. Trifold biopsy was made due to inconsistency of the clinical picture with the finding. Steroid therapy was applied at the first visit showing good response, and of course clouded the diagnosis. Partial resection of tumor masses was made during the 2nd visit and 2nd biopsy.

Results showed some response to anti-inflammatory therapy and yet unclear diagnosis. A larger biopsy contributed to the reduction of double images without significant reduction in exophthalmos. The diagnosis was made after the 3rd skin biopsy.

Conclusion: a rare disease requiring a multidisciplinary approach. Further monitoring of the progression of orbital fibromas and/or subsequent orbital surgery and/or radiation or chemotherapy is required.


neurofibromatosis, tumor, orbit, exophthalmos

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obbous M, Bernstock JD, Coffee E, et al. An Update on Neurofibromatosis Type 1-Associated Gliomas. Cancers, 2020, 12(1), 114; doi:10.3390/cancers12010114.

Kehrer-Sawatzki H, Mautner V-F, Cooper DN. Emerging Genotype – Phenotype Relationships in Patients with Large NF1 Deletions. Hum Genet, 2017, 136, 349-376, crossref:

Jain G, Jain VK, Sharma IK, et al. Neurofibromatosis Type 1 Presenting with Ophthalmic Features: A Case Series. J Clin Diagn Res, 2016;10(11):SR01-SR03, doi:10.7860/JCDR/2016/21041.8780.

Gandhi NG. Treatment of neuro-ophthalmic and orbitofacial manifestations of neurofibromatosis type 1. Curr Opin Ophthalmol, 2013;24(5):506-11, doi: 10.1097/ICU.0b013e32836348a4.

Hirbe AC, Gutmann DH. Neurofibromatosis type 1: a multidisciplinary approach to care. Lancet, 2014, 13(8):834-843, DOI:10.1016/S1474-4422(14)70063-8.

Anon, National Institutes of Health Consensus Development Conference Statement: neurofibromatosis – Bethesda, MD, USA, Neurofibromatosis. 1988; 1: 172-178.

Madanikia SA, Bergner A, Ye X, et al. Increased risk of breast cancer in women with NF1. Am J Med Genet A, 2012; 158A: 3056-3060.

Walther MM, Herring J, Enquist E, et al. Von Recklinghausen’s disease and pheochromocytomas. J Urol, 1999; 162: 1582-1586.

Wang X, Levin AM, Smolinski SE, et al. Breast cancer and other neoplasms in women with neurofibromatosis type 1: a retrospective review of cases in the Detroit metropolitan area. Am J Med Genet A, 2012; 158A: 3061-3064.

Dimitrova V, Yordanova I, Pavlova V, et al. A case of neurofibromatosis type 1. Journal of IMAB – Annual Proceeding (Scientific Papers), 2008; book 1: 63-67.



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About The Authors

G. Balchev
Medical University – Pleven

Ch. Balabanov
Medical University – Pleven

S. Murgova
Medical University – Pleven