{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,11]],"date-time":"2025-11-11T22:31:33Z","timestamp":1762900293115,"version":"build-2065373602"},"reference-count":24,"publisher":"MDPI AG","issue":"5","license":[{"start":{"date-parts":[[2022,5,13]],"date-time":"2022-05-13T00:00:00Z","timestamp":1652400000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Medicina"],"abstract":"<jats:p>Neurotrophic keratitis is a rare degenerative disease of the cornea that can lead to corneal ulceration, scarring, and significant visual impairment. It most commonly occurs in adults and is rarely diagnosed in children. Congenital corneal anesthesia is an extremely rare condition that requires appropriate ophthalmologists\u2019 attention in making diagnosis and treatment decisions. This condition usually presents in infancy or early childhood and is characterized by rare blinking rate, decreased tearing or a corneal ulcer that is unresponsive to treatment. In this case report, we describe a patient with multiple systemic and neurological disorders who presented to the ophthalmology department due to corneal erosion unresponsive to treatment. Brain magnetic resonance imaging confirmed bilateral trigeminal hypoplasia and the diagnosis of neurotrophic keratopathy due to bilateral congenital corneal anesthesia was made. The discrepancy between clinical signs and symptoms or treatment non-response in cases of corneal erosions should alert the ophthalmologists to suspect trigeminal dysfunction. MRI is the gold standard to confirm congenital corneal anesthesia and to differentiate from other possible neurotrophic keratitis causes.<\/jats:p>","DOI":"10.3390\/medicina58050657","type":"journal-article","created":{"date-parts":[[2022,5,13]],"date-time":"2022-05-13T08:37:02Z","timestamp":1652431022000},"page":"657","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Neurotrophic Keratitis Due to Congenital Corneal Anesthesia with Deafness, Hypotonia, Intellectual Disability, Face Abnormality and Metabolic Disorder: A New Syndrome?"],"prefix":"10.3390","volume":"58","author":[{"given":"Arvydas","family":"Gelzinis","sequence":"first","affiliation":[{"name":"Department of Ophthalmology, Medical Academy, Lithuanian University of Health Sciences, 44037 Kaunas, Lithuania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dovile","family":"Simonaviciute","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Medical Academy, Lithuanian University of Health Sciences, 44037 Kaunas, Lithuania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Agne","family":"Krucaite","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Medical Academy, Lithuanian University of Health Sciences, 44037 Kaunas, Lithuania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luca","family":"Buzzonetti","sequence":"additional","affiliation":[{"name":"Ophthalmology Department, Bambino Ges\u00f9 Children\u2019s Hospital, IRCCS, 00165 Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H\u00e9l\u00e8ne","family":"Dollfus","sequence":"additional","affiliation":[{"name":"Centre de R\u00e9f\u00e9rence Pour les Affections Rares en G\u00e9n\u00e9tique Ophtalmologiques, H\u00f4pitaux Universitaires de Strasbourg, F-67000 Strasbourg, France"},{"name":"Laboratoire de G\u00e9n\u00e9tique M\u00e9dicale, INSERM U1112, Institut de G\u00e9n\u00e9tique M\u00e9dicale d\u2019Alsace (IGMA), Universit\u00e9 de Strasbourg, F-67000 Strasbourg, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Reda","family":"Zemaitiene","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Medical Academy, Lithuanian University of Health Sciences, 44037 Kaunas, Lithuania"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2022,5,13]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1016\/j.survophthal.2013.09.002","article-title":"Corneal nerves in health and disease","volume":"59","author":"Shaheen","year":"2014","journal-title":"Surv. 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