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Case Report

Neurofibromatosis Type 1—Retinal Alterations Detectable with Optical Coherence Tomography Angiography

by
Anca Elena Târtea
1,
Carmen Luminița Mocanu
2,
Alin Ștefan Ștefănescu Dima
2,
Andreea Cornelia Tănasie
2,
Veronica Maria
3,
Alexandra Oltea Dan
2,* and
Andrei Theodor Bălășoiu
2
1
Department of Neurology, University of Medicine and Pharmacy of Craiova, 200349 Craiova, Romania
2
Department of Ophthalmology, University of Medicine and Pharmacy of Craiova, 200349 Craiova, Romania
3
Department of Pediatrics, University of Medicine and Pharmacy of Craiova, 200349 Craiova, Romania
*
Author to whom correspondence should be addressed.
Diagnostics 2024, 14(13), 1447; https://doi.org/10.3390/diagnostics14131447 (registering DOI)
Submission received: 28 May 2024 / Revised: 27 June 2024 / Accepted: 4 July 2024 / Published: 6 July 2024
(This article belongs to the Special Issue Updates on the Diagnosis and Management of Retinal Diseases)

Abstract

Neurofibromatosis type 1 (NF 1) is a multisystemic genetic disorder involving aberrant proliferation of multiple tissues of a neural crest origin. It represents a tumor predisposition syndrome characterized by a wide range of clinical manifestations, such as benign tumors, which primarily affect the skin and the nervous system. The most frequent clinical signs of NF 1 include café-au-lait spots all over the surface of the skin and axillary freckling; however, these signs can be accompanied by more severe manifestations such as the growth of both benign and malignant nervous system tumors and skeletal dysplasia, as well as a wide range of ocular manifestations. We report the rare case of retinal microvascular alterations and choroidal nodules in a 15 year old male patient with NF 1, detectable on optical coherence tomography angiography (OCTA). The hyperreflective choroidal nodules modified the profile of the choroidal vasculature. The retinal microvascular alterations in the form of clustered capillaries were detected in the superficial capillary plexus located nasally to the macular region. Retinal vascular abnormalities undetectable on fundus photography or fundoscopy can be present in patients with NF 1. Indirect ophthalmoscopy of our study patient was unremarkable. However, retinal vascular abnormalities were seen on OCTA scans in the superficial capillary plexus and choroidal nodules were detected on raster OCT scans. OCTA represents a useful imaging technique for detecting retinal microvascular abnormalities, which can be considered additional distinctive signs of NF 1.
Keywords: neurofibromatosis type 1; retinal microvascular alterations; choroidal nodules; optical coherence tomography angiography neurofibromatosis type 1; retinal microvascular alterations; choroidal nodules; optical coherence tomography angiography

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MDPI and ACS Style

Târtea, A.E.; Mocanu, C.L.; Ștefănescu Dima, A.Ș.; Tănasie, A.C.; Maria, V.; Dan, A.O.; Bălășoiu, A.T. Neurofibromatosis Type 1—Retinal Alterations Detectable with Optical Coherence Tomography Angiography. Diagnostics 2024, 14, 1447. https://doi.org/10.3390/diagnostics14131447

AMA Style

Târtea AE, Mocanu CL, Ștefănescu Dima AȘ, Tănasie AC, Maria V, Dan AO, Bălășoiu AT. Neurofibromatosis Type 1—Retinal Alterations Detectable with Optical Coherence Tomography Angiography. Diagnostics. 2024; 14(13):1447. https://doi.org/10.3390/diagnostics14131447

Chicago/Turabian Style

Târtea, Anca Elena, Carmen Luminița Mocanu, Alin Ștefan Ștefănescu Dima, Andreea Cornelia Tănasie, Veronica Maria, Alexandra Oltea Dan, and Andrei Theodor Bălășoiu. 2024. "Neurofibromatosis Type 1—Retinal Alterations Detectable with Optical Coherence Tomography Angiography" Diagnostics 14, no. 13: 1447. https://doi.org/10.3390/diagnostics14131447

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