{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T01:56:54Z","timestamp":1760147814534,"version":"build-2065373602"},"reference-count":32,"publisher":"MDPI AG","issue":"5","license":[{"start":{"date-parts":[[2023,3,4]],"date-time":"2023-03-04T00:00:00Z","timestamp":1677888000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Diagnostics"],"abstract":"<jats:p>Facioscapulohumeral muscular dystrophy (FSHD) is a slowly progressive muscular dystrophy with a wide range of manifestations including retinal vasculopathy. This study aimed to analyse retinal vascular involvement in FSHD patients using fundus photographs and optical coherence tomography-angiography (OCT-A) scans, evaluated through artificial intelligence (AI). Thirty-three patients with a diagnosis of FSHD (mean age 50.4 \u00b1 17.4 years) were retrospectively evaluated and neurological and ophthalmological data were collected. Increased tortuosity of the retinal arteries was qualitatively observed in 77% of the included eyes. The tortuosity index (TI), vessel density (VD), and foveal avascular zone (FAZ) area were calculated by processing OCT-A images through AI. The TI of the superficial capillary plexus (SCP) was increased (p &lt; 0.001), while the TI of the deep capillary plexus (DCP) was decreased in FSHD patients in comparison to controls (p = 0.05). VD scores for both the SCP and the DCP results increased in FSHD patients (p = 0.0001 and p = 0.0004, respectively). With increasing age, VD and the total number of vascular branches showed a decrease (p = 0.008 and p &lt; 0.001, respectively) in the SCP. A moderate correlation between VD and EcoRI fragment length was identified as well (r = 0.35, p = 0.048). For the DCP, a decreased FAZ area was found in FSHD patients in comparison to controls (t (53) = \u22126.89, p = 0.01). A better understanding of retinal vasculopathy through OCT-A can support some hypotheses on the disease pathogenesis and provide quantitative parameters potentially useful as disease biomarkers. In addition, our study validated the application of a complex toolchain of AI using both ImageJ and Matlab to OCT-A angiograms.<\/jats:p>","DOI":"10.3390\/diagnostics13050982","type":"journal-article","created":{"date-parts":[[2023,3,6]],"date-time":"2023-03-06T06:29:06Z","timestamp":1678084146000},"page":"982","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Artificial Intelligence for Evaluation of Retinal Vasculopathy in Facioscapulohumeral Dystrophy Using OCT Angiography: A Case Series"],"prefix":"10.3390","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3754-7486","authenticated-orcid":false,"given":"Martina","family":"Maceroni","sequence":"first","affiliation":[{"name":"Institute of Ophthalmology, Universit\u00e0 Cattolica del Sacro Cuore, 00168 Rome, Italy"},{"name":"UOC di Oculistica, Fondazione Policlinico Universitario A. Gemelli-IRCCS, 00168 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mauro","family":"Monforte","sequence":"additional","affiliation":[{"name":"UOC di Neurologia, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rossella","family":"Cariola","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, University of Turin, 10126 Turin, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1694-1062","authenticated-orcid":false,"given":"Benedetto","family":"Falsini","sequence":"additional","affiliation":[{"name":"Institute of Ophthalmology, Universit\u00e0 Cattolica del Sacro Cuore, 00168 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stanislao","family":"Rizzo","sequence":"additional","affiliation":[{"name":"Institute of Ophthalmology, Universit\u00e0 Cattolica del Sacro Cuore, 00168 Rome, Italy"},{"name":"UOC di Oculistica, Fondazione Policlinico Universitario A. Gemelli-IRCCS, 00168 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria Cristina","family":"Savastano","sequence":"additional","affiliation":[{"name":"Institute of Ophthalmology, Universit\u00e0 Cattolica del Sacro Cuore, 00168 Rome, Italy"},{"name":"UOC di Oculistica, Fondazione Policlinico Universitario A. Gemelli-IRCCS, 00168 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6963-8331","authenticated-orcid":false,"given":"Francesco","family":"Martelli","sequence":"additional","affiliation":[{"name":"Department of Cardiovascular, Endocrine-Metabolic Diseases and Ageing, Istituto Superiore di Sanit\u00e0, 00161 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Enzo","family":"Ricci","sequence":"additional","affiliation":[{"name":"Institute of Neurology, Universit\u00e0 Cattolica del Sacro Cuore, 00168 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6472-0563","authenticated-orcid":false,"given":"Sara","family":"Bortolani","sequence":"additional","affiliation":[{"name":"UOC di Neurologia, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0849-9144","authenticated-orcid":false,"given":"Giorgio","family":"Tasca","sequence":"additional","affiliation":[{"name":"UOC di Neurologia, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy"},{"name":"John Walton Muscular Dystrophy Research Centre, Newcastle Hospitals NHS Foundation Trusts, Newcastle University, Newcastle Upon Tyne NE1 3BZ, UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Angelo Maria","family":"Minnella","sequence":"additional","affiliation":[{"name":"Institute of Ophthalmology, Universit\u00e0 Cattolica del Sacro Cuore, 00168 Rome, Italy"},{"name":"UOC di Oculistica, Fondazione Policlinico Universitario A. Gemelli-IRCCS, 00168 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2023,3,4]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"357","DOI":"10.1212\/WNL.0000000000001783","article-title":"Evidence-based guideline summary: Evaluation, diagnosis, and management of facioscapulohumeral muscular dystrophy: Report of the Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine","volume":"85","author":"Tawil","year":"2015","journal-title":"Neurology"},{"key":"ref_2","first-page":"1229","article-title":"Facioscapulohumeral Muscolar Dystrophy","volume":"7","author":"Pakula","year":"2017","journal-title":"Compr. 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