{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,13]],"date-time":"2025-05-13T14:21:39Z","timestamp":1747146099881,"version":"3.40.5"},"reference-count":19,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2021,2,5]],"date-time":"2021-02-05T00:00:00Z","timestamp":1612483200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2021,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A 5\u2010year\u2010old girl presented with treatment\u2010refractory dry eye and recurrent episodes of eye pain. She had been previously diagnosed with syndromic congenital sodium diarrhea (SCSD) caused by a pathogenic variant in <jats:italic>SPINT2<\/jats:italic>. Her local pediatric ophthalmologist had made the diagnosis of severe dry eye with corneal erosions, based on which, we arranged an eye exam under anesthesia (EUA) and punctal plug placement. Anterior segment optical coherence tomography (OCT) and corneal photographs were taken during the procedure. There are reports describing similar ophthalmic findings in this syndrome. However, to the best of our knowledge, this is the first case report to document OCT imaging and corneal photographs in a patient with SCSD, which we feel expands the ophthalmic phenotype of this rare genetic disorder.<\/jats:p>","DOI":"10.1002\/ajmg.a.62094","type":"journal-article","created":{"date-parts":[[2021,2,8]],"date-time":"2021-02-08T17:28:44Z","timestamp":1612805324000},"page":"1270-1274","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Expansion of the ophthalmic phenotype of <scp><i>SPINT2<\/i><\/scp>\u2010related syndromic congenital sodium diarrhea"],"prefix":"10.1002","volume":"185","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3254-7364","authenticated-orcid":false,"given":"Julia","family":"Ernst","sequence":"first","affiliation":[{"name":"Eye Center UPMC Children's Hospital of Pittsburgh  Pittsburgh Pennsylvania USA"},{"name":"The Division of Pediatric Ophthalmology, Strabismus and Adult Motility UPMC Children's Hospital of Pittsburgh  Pittsburgh Pennsylvania USA"},{"name":"Medical University of Warsaw  Warsaw Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jamila","family":"Hiasat","sequence":"additional","affiliation":[{"name":"Eye Center UPMC Children's Hospital of Pittsburgh  Pittsburgh Pennsylvania USA"},{"name":"The Division of Pediatric Ophthalmology, Strabismus and Adult Motility UPMC Children's Hospital of Pittsburgh  Pittsburgh Pennsylvania USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michelle L.","family":"Alabek","sequence":"additional","affiliation":[{"name":"Eye Center UPMC Children's Hospital of Pittsburgh  Pittsburgh Pennsylvania USA"},{"name":"The Division of Pediatric Ophthalmology, Strabismus and Adult Motility UPMC Children's Hospital of Pittsburgh  Pittsburgh Pennsylvania USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hannah L.","family":"Scanga","sequence":"additional","affiliation":[{"name":"Eye Center UPMC Children's Hospital of Pittsburgh  Pittsburgh Pennsylvania USA"},{"name":"The Division of Pediatric Ophthalmology, Strabismus and Adult Motility UPMC Children's Hospital of Pittsburgh  Pittsburgh Pennsylvania USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"William","family":"Motley","sequence":"additional","affiliation":[{"name":"Division of Pediatric Ophthalmology Cincinnati Children's Hospital  Cincinnati Ohio USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ken K.","family":"Nischal","sequence":"additional","affiliation":[{"name":"Eye Center UPMC Children's Hospital of Pittsburgh  Pittsburgh Pennsylvania USA"},{"name":"The Division of Pediatric Ophthalmology, Strabismus and Adult Motility UPMC Children's Hospital of Pittsburgh  Pittsburgh Pennsylvania USA"},{"name":"School of Medicine University of Pittsburgh  Pittsburgh Pennsylvania USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,2,5]]},"reference":[{"doi-asserted-by":"publisher","key":"e_1_2_8_2_1","DOI":"10.1155\/2020\/5608069"},{"doi-asserted-by":"publisher","key":"e_1_2_8_3_1","DOI":"10.1186\/s12885-015-2039-6"},{"doi-asserted-by":"publisher","key":"e_1_2_8_4_1","DOI":"10.1007\/s12519-015-0070-y"},{"doi-asserted-by":"publisher","key":"e_1_2_8_5_1","DOI":"10.1097\/ICO.0000000000000334"},{"doi-asserted-by":"publisher","key":"e_1_2_8_6_1","DOI":"10.3129\/i07-168"},{"doi-asserted-by":"publisher","key":"e_1_2_8_7_1","DOI":"10.1016\/j.ajhg.2009.01.004"},{"doi-asserted-by":"publisher","key":"e_1_2_8_8_1","DOI":"10.1002\/ajmg.a.38637"},{"doi-asserted-by":"publisher","key":"e_1_2_8_9_1","DOI":"10.1093\/hmg\/ddy394"},{"doi-asserted-by":"publisher","key":"e_1_2_8_10_1","DOI":"10.1167\/iovs.61.3.21"},{"doi-asserted-by":"publisher","key":"e_1_2_8_11_1","DOI":"10.2353\/ajpath.2009.090240"},{"doi-asserted-by":"publisher","key":"e_1_2_8_12_1","DOI":"10.1074\/jbc.M112.443432"},{"doi-asserted-by":"publisher","key":"e_1_2_8_13_1","DOI":"10.2147\/OPTH.S157430"},{"key":"e_1_2_8_14_1","first-page":"1129","article-title":"Alcohol delamination of the corneal epithelium for recurrent corneal erosion syndrome","volume":"11","author":"N\u00ed Mh\u00e9al\u00f3id \u00c1.","year":"2018","journal-title":"International Journal of Ophthalmology"},{"doi-asserted-by":"publisher","key":"e_1_2_8_15_1","DOI":"10.1016\/j.ajo.2010.01.034"},{"doi-asserted-by":"publisher","key":"e_1_2_8_16_1","DOI":"10.1007\/s00439-013-1380-6"},{"doi-asserted-by":"publisher","key":"e_1_2_8_17_1","DOI":"10.1097\/MCD.0b013e328331de38"},{"doi-asserted-by":"publisher","key":"e_1_2_8_18_1","DOI":"10.1097\/MCD.0b013e328361d42f"},{"doi-asserted-by":"publisher","key":"e_1_2_8_19_1","DOI":"10.1097\/ICO.0000000000000307"},{"key":"e_1_2_8_20_1","first-page":"13","article-title":"Corneal innervation and sensation: The eye and beyond","volume":"91","author":"Yang A. 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