{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T02:34:08Z","timestamp":1760150048761,"version":"build-2065373602"},"reference-count":35,"publisher":"MDPI AG","issue":"10","license":[{"start":{"date-parts":[[2023,9,30]],"date-time":"2023-09-30T00:00:00Z","timestamp":1696032000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Department of Pediatric Ophthalmology, Medical University of Silesia","award":["PCN-1-182\/N\/1\/K","PCN-1-025\/K\/2\/K"],"award-info":[{"award-number":["PCN-1-182\/N\/1\/K","PCN-1-025\/K\/2\/K"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Children"],"abstract":"<jats:p>Background: Noonan syndrome (NS) represents a fairly common genetic disorder with a highly variable phenotype. Its features include inherited heart defects, characteristic facial features, short stature, and mild retardation of motor skills. Case presentation: A 16-year-old Caucasian girl with NS reported visual deterioration, photophobia, and pain in the right eye (RE). The initial best-corrected visual acuity (BCVA) was 0.3 in the RE. An examination demonstrated conjunctival and ciliary body hyperemia, keratic precipitates, and flare in the anterior chamber. In addition, post-hemorrhagic floaters, tortuous vessels, and an epiretinal membrane in the RE were present. Diagnosis of unilateral anterior uveitis was made, and this resolved after the use of topical steroids and cycloplegic drops. Due to the presence of retinal telangiectasias and extraocular exudates (consistent with Coats\u2019 disease (CD) stage 2A) in the RE, laser therapy was performed. The patient remains under constant follow-up, and after one year, the BCVA in the RE was 0.7. Conclusions: Here, we report the clinical characteristics, genetic findings, and retinal imaging results of a patient with NS. To our knowledge, this is, to date, the first report of an association of NS with a PTPN11 mutation with anterior uveitis and CD.<\/jats:p>","DOI":"10.3390\/children10101643","type":"journal-article","created":{"date-parts":[[2023,10,1]],"date-time":"2023-10-01T16:58:09Z","timestamp":1696179489000},"page":"1643","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Anterior Uveitis and Coats Disease in a 16-Year-Old Girl with Noonan Syndrome\u2014A Case Report"],"prefix":"10.3390","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5734-2456","authenticated-orcid":false,"given":"Marta","family":"\u015awierczy\u0144ska","sequence":"first","affiliation":[{"name":"Department of Ophthalmology, Faculty of Medical Sciences in Katowice, Medical University of Silesia, 40-055 Katowice, Poland"},{"name":"Department of Ophthalmology, Kornel Gibi\u0144ski University Clinical Center, Medical University of Silesia, 40-055 Katowice, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3651-4017","authenticated-orcid":false,"given":"Agnieszka","family":"Tronina","sequence":"additional","affiliation":[{"name":"Department of Pediatric Ophthalmology, Faculty of Medical Sciences in Katowice, Medical University of Silesia, 40-055 Katowice, Poland"},{"name":"Department of Pediatric Ophthalmology, Kornel Gibi\u0144ski University Clinical Center, Medical University of Silesia, 40-055 Katowice, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Lorenc","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Faculty of Medical Sciences in Katowice, Medical University of Silesia, 40-055 Katowice, Poland"},{"name":"Department of Ophthalmology, Kornel Gibi\u0144ski University Clinical Center, Medical University of Silesia, 40-055 Katowice, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Erita","family":"Filipek","sequence":"additional","affiliation":[{"name":"Department of Pediatric Ophthalmology, Faculty of Medical Sciences in Katowice, Medical University of Silesia, 40-055 Katowice, Poland"},{"name":"Department of Pediatric Ophthalmology, Kornel Gibi\u0144ski University Clinical Center, Medical University of Silesia, 40-055 Katowice, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2023,9,30]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"333","DOI":"10.1016\/S0140-6736(12)61023-X","article-title":"Noonan syndrome","volume":"381","author":"Roberts","year":"2013","journal-title":"Lancet"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"61.e1","DOI":"10.1016\/j.anpedi.2020.04.008","article-title":"Noonan syndrome: Genetic and clinical update and treatment options","volume":"93","author":"Carcavilla","year":"2020","journal-title":"An. 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