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Open AccessCase Report
Neurofibromatosis Type 1—Retinal Alterations Detectable with Optical Coherence Tomography Angiography
by
Anca Elena Târtea
Anca Elena Târtea 1,
Carmen Luminița Mocanu
Carmen Luminița Mocanu 2,
Alin Ștefan Ștefănescu Dima
Alin Ștefan Ștefănescu Dima 2,
Andreea Cornelia Tănasie
Andreea Cornelia Tănasie 2,
Veronica Maria
Veronica Maria 3,
Alexandra Oltea Dan
Alexandra Oltea Dan 2,*
and
Andrei Theodor Bălășoiu
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
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.
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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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