Bilateral Combined Hamartoma of the Retina and Retinal Pigment Epithelium in Neurofibromatosis Type 2

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Title Bilateral Combined Hamartoma of the Retina and Retinal Pigment Epithelium in Neurofibromatosis Type 2
Creator Flávia Sprenger; Kenzo Hokazono; Ana Chrystina de Souza Crippa; Bernardo Corrêa de Almeida Teixeira
Affiliation Departments of Radiology (FS, BCAT), Ophtalmology (KH), and Neurology (ACSC), Hospital de Clínicas, Universidade Federal do Paraná, Curitiba, Paraná, Brazil
Abstract A 15-year-old male patient with a known history of neurofibromatosis Type 2 (NF-2) presented to a tertiary care center with progressive and bilateral vision loss. Clinical ophthalmological examination confirmed reduced visual acuity, revealing 20/50 vision on the right eye and only hand movement perception on the left eye.
Subject Fluorescein Angiography; Hamartoma; Neurofibromatosis 2; Retina; Retinal Diseases; Retinal Pigment Epithelium
OCR Text Show
Date 2022-12
Date Digital 2022-12
References 1. Grant EA, Trzupek KM, Reiss J, Crow K, Messiaen L, Weleber RG. Combined retinal hamartomas leading to the diagnosis of neurofibromatosis type 2. Ophthalmic Genet. 2008;29:133-138. 2. Gaudioso C, Listernick R, Fisher MJ, Campen CJ, Paz A, Gutamann DD. Neurofibromatosis 2 in children presenting during the first decade of life. Neurology. 2019;93:964-967. 3. Borofsky S, Levy LM. Neurofibromatosis: types 1 and 2. Am J Neuroradiol. 2013;34:2250-2251. 4. Shields CL, Mashayekhi A, Dai VV, Materin MA, Shields JA. Optical coherence tomographic findings of combined hamartoma of the retina and retinal pigment epithelium in 11 patients. JAMA Ophtalmol. 2005;123:1746-1750. 5. Yassin AS, Al-Tamimi ER. Familial bilateral combined hamartoma of retina and retinal pigment epithelium associated with neurofibromatosis 1. Saudi J Ophtalmol. 2012;26:229-234.
Language eng
Format application/pdf
Type Text
Publication Type Journal Article
Source Journal of Neuro-Ophthalmology, December 2022, Volume 42, Issue 4
Collection Neuro-Ophthalmology Virtual Education Library: Journal of Neuro-Ophthalmology Archives: https://novel.utah.edu/jno/
Publisher Lippincott, Williams & Wilkins
Holding Institution Spencer S. Eccles Health Sciences Library, University of Utah
Rights Management © North American Neuro-Ophthalmology Society
ARK ark:/87278/s65mw4y2
Setname ehsl_novel_jno
ID 2392965
Reference URL https://collections.lib.utah.edu/ark:/87278/s65mw4y2
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