A Case of Neurofibromatosis Type 2 With Unusual Clinical Features

Science Communicator Platform

Stay connected! Follow us on X network (Twitter):

Share By

A Case of Neurofibromatosis Type 2 With Unusual Clinical Features Publisher Pubmed

Zarei M¹ ; Hamzeloui P¹ ; Rooipoor R¹ ; Fard MA¹

Source: Retinal Cases and Brief Reports Published:2020

Abstract

Purpose:To report a case of a neurofibromatosis Type 2 with unusual clinical features.Methods:Observational clinical case report.Results:A 22-year-old woman was referred with bilateral blurred vision and macular scars. Ocular examination revealed bilateral posterior subcapsular and cortical cataract, optic disk swelling, hyperpigmented macular lesions, epiretinal membrane, and macular temporal dragging. Spectral-domain optical coherence tomographic imaging showed bilateral epiretinal membranes, peripapillary nerve fiber layer thickening, and vitreoretinal tractional bands. In the right eye, focal choroidal excavation was noted at the site of the macular lesion. In fluorescein angiography, mild vascular leakage, capillary nonperfusion, and ground glass hyperfluorescence was seen in temporal periphery of the right eye. Brain imaging showed intracranial calcification and vestibular schwannoma, which was removed by a neurosurgeon. A clinical diagnosis of neurofibromatosis Type 2 was made.Conclusion:A case of neurofibromatosis Type 2 with some possibly novel or rare findings, namely, focal choroidal excavation, ash leaf spots, and intracranial calcifications was presented. © 2020 by Ophthalmic Communications Society, Inc.

Related Docs

View other Related Docs

1. Focal Choroidal Excavation in Best Vitelliform Macular Dystrophy: Case Report, Journal of Clinical and Diagnostic Research (2015)

2. Solitary Neurofibroma of the Orbit With Intracerebral Extension Associated With Ocular Surface Melanocytoma: A Case Report, Orbit (London) (2020)

3. Evaluation of Lamina Cribrosa and Choroid in Nonglaucomatous Patients With Pseudoexfoliation Syndrome Using Spectral-Domain Optical Coherence Tomography, Investigative Ophthalmology and Visual Science (2016)

Experts (# of related papers)

View all Related Experts

Hamid Riazi-Esfahani (6)

Nazanin Ebrahimi Adib (5)

Other Related Docs

4. Choroidal Features in Flat Irregular Pigment Epithelial Detachment Associated With Chronic Central Serous Chorioretinopathy: Avascular Versus Vascularized, PLoS ONE (2021)

5. Bilateral Central Serous Retinal Detachment in a Patient With Nephrotic Syndrome: A Case Report, Journal of Medical Case Reports (2023)

6. Peripapillary Choroidal Thickness in Nonarteritic Anterior Ischemic Optic Neuropathy, Investigative Ophthalmology and Visual Science (2015)

7. Optical Coherence Tomography Angiography in Choroidal Melanoma and Nevus, Clinical Ophthalmology (2018)

8. Circumpapillary Retinal Nerve Fiber Layer, Optic Nerve Head, and Related Structural Abnormalities, Atlas of Ocular Optical Coherence Tomograph# Second Edition (2023)

9. Vascular Abnormalities in Uveitis, Survey of Ophthalmology (2021)

10. Comparison of the Pattern of Macular Ganglion Cell-Inner Plexiform Layer Defect Between Ischemic Optic Neuropathy and Open–Angle Glaucoma, Investigative Ophthalmology and Visual Science (2016)

11. Early Macular Vessel Density Loss in Acute Ischemic Optic Neuropathy Compared to Papilledema: Implications for Pathogenesis, Translational Vision Science and Technology (2018)

12. Expanded Spectrum of Optical Coherence Tomography Findings in Patients With Ocular Toxoplasmosis, Ocular Immunology and Inflammation (2022)

13. Central Serous Chorioretinopathy and Achromatopsia: A Case Report, Documenta Ophthalmologica (2020)

14. Idiopathic Choroidal Neovascularization in a 23-Year-Old Girl, Archives of Iranian Medicine (2015)

15. Malignant Peripheral Nerve Sheath Tumor of Lacrimal Nerve: A Case Report, Orbit (London) (2015)

16. Optical Coherence Tomography Angiography in Best Vitelliform Macular Dystrophy, Journal of Current Ophthalmology (2019)

17. Ocular Tumors, Atlas of Ocular Optical Coherence Tomograph# Second Edition (2023)

18. Subthreshold Continuous Wave Autofluorescence-Controlled Laser Treatment of Chronic Central Serous Chorioretinopathy, Journal of Ophthalmic and Vision Research (2018)

19. Epiretinal Membrane, Macular Hole and Vitreomacular Traction (Vmt) Syndrome, Atlas of Ocular Optical Coherence Tomograph# Second Edition (2023)

20. Macular Telangiectasia With Bilateral Obliterated Capillaries: A Case Report, Journal of Medical Case Reports (2022)

Style	Citing Format
MLA	Zarei M, et al.. "A Case of Neurofibromatosis Type 2 With Unusual Clinical Features." Retinal Cases and Brief Reports, vol. 14, no. 1, 2020, pp. 96-99.
APA	Zarei M, Hamzeloui P, Rooipoor R, Fard MA (2020). A Case of Neurofibromatosis Type 2 With Unusual Clinical Features. Retinal Cases and Brief Reports, 14(1), 96-99.
Chicago	Zarei M, Hamzeloui P, Rooipoor R, Fard MA. "A Case of Neurofibromatosis Type 2 With Unusual Clinical Features." Retinal Cases and Brief Reports 14, no. 1 (2020): 96-99.
Harvard	Zarei M et al. (2020) 'A Case of Neurofibromatosis Type 2 With Unusual Clinical Features', Retinal Cases and Brief Reports, 14(1), pp. 96-99.
Vancouver	Zarei M, Hamzeloui P, Rooipoor R, Fard MA. A Case of Neurofibromatosis Type 2 With Unusual Clinical Features. Retinal Cases and Brief Reports. 2020;14(1):96-99.
BibTex	@article{ author = {Zarei M and Hamzeloui P and Rooipoor R and Fard MA}, title = {A Case of Neurofibromatosis Type 2 With Unusual Clinical Features}, journal = {Retinal Cases and Brief Reports}, volume = {14}, number = {1}, pages = {96-99}, year = {2020} }
RIS	TY - JOUR AU - Zarei M AU - Hamzeloui P AU - Rooipoor R AU - Fard MA TI - A Case of Neurofibromatosis Type 2 With Unusual Clinical Features JO - Retinal Cases and Brief Reports VL - 14 IS - 1 SP - 96 EP - 99 PY - 2020 ER -

Science Communicator Platform

Authors

Abstract