{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T01:15:25Z","timestamp":1760145325131,"version":"build-2065373602"},"reference-count":30,"publisher":"MDPI AG","issue":"13","license":[{"start":{"date-parts":[[2024,7,6]],"date-time":"2024-07-06T00:00:00Z","timestamp":1720224000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"University of Medicine and Pharmacy of Craiova, Romania"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Diagnostics"],"abstract":"<jats:p>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 caf\u00e9-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.<\/jats:p>","DOI":"10.3390\/diagnostics14131447","type":"journal-article","created":{"date-parts":[[2024,7,8]],"date-time":"2024-07-08T04:52:49Z","timestamp":1720414369000},"page":"1447","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Neurofibromatosis Type 1\u2014Retinal Alterations Detectable with Optical Coherence Tomography Angiography"],"prefix":"10.3390","volume":"14","author":[{"given":"Anca Elena","family":"T\u00e2rtea","sequence":"first","affiliation":[{"name":"Department of Neurology, University of Medicine and Pharmacy of Craiova, 200349 Craiova, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carmen Lumini\u021ba","family":"Mocanu","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, University of Medicine and Pharmacy of Craiova, 200349 Craiova, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alin \u0218tefan","family":"\u0218tef\u0103nescu Dima","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, University of Medicine and Pharmacy of Craiova, 200349 Craiova, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andreea Cornelia","family":"T\u0103nasie","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, University of Medicine and Pharmacy of Craiova, 200349 Craiova, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Veronica","family":"Maria","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University of Medicine and Pharmacy of Craiova, 200349 Craiova, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7543-3084","authenticated-orcid":false,"given":"Alexandra Oltea","family":"Dan","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, University of Medicine and Pharmacy of Craiova, 200349 Craiova, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrei Theodor","family":"B\u0103l\u0103\u0219oiu","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, University of Medicine and Pharmacy of Craiova, 200349 Craiova, Romania"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2024,7,6]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"147","DOI":"10.1186\/s13023-021-01773-w","article-title":"Hyperpigmented spots at fundus examination: A new ocular sign in Neurofibromatosis Type I","volume":"16","author":"Moramarco","year":"2021","journal-title":"Orphanet J. 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