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The purpose of the current study was to evaluate ocular manifestations in pediatric patients with ED.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Retrospective case series including consecutive ED subjects who were treated in the ophthalmology department at the Children\u2019s Hospital of Philadelphia over a 12-year period (2009\u20132020). Main Outcome Measures were ocular and ocular adnexal abnormalities.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Thirty subjects were included: 20 males (67%), mean age of 4.5\u00a0years (range 0.3\u201318). Patients with different subtypes were included, with the hypohidrotic ED and ectrodactyly-ectodermal dysplasia-clefting variants being most prevalent. Most common findings were: lacrimal drainage obstruction in 12 (40%) including punctal agenesis in 10 (33%), refractive errors in 13 (43%) and amblyopia in 6 (20%). A new finding of eyelid ptosis or eyelash ptosis was demonstrated in 11 subjects (37%), mostly associated with\n                      <jats:italic>TP63<\/jats:italic>\n                      or\n                      <jats:italic>EDA1<\/jats:italic>\n                      genes variants.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>Ectodermal dysplasias are associated with various ocular pathologies and amblyopia in the pediatric population. We report a possible genetic association between lash ptosis and EDA1 gene, and eyelid ptosis and TP63 or EDA1 genes variants.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1186\/s13023-021-01824-2","type":"journal-article","created":{"date-parts":[[2021,5,3]],"date-time":"2021-05-03T08:01:23Z","timestamp":1620028883000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["Ocular manifestations of ectodermal dysplasia"],"prefix":"10.1186","volume":"16","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0910-3829","authenticated-orcid":false,"given":"Daphna","family":"Landau Prat","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"William R.","family":"Katowitz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alanna","family":"Strong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James A.","family":"Katowitz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2021,5,1]]},"reference":[{"key":"1824_CR1","doi-asserted-by":"publisher","first-page":"442","DOI":"10.1002\/ajmg.a.61045","volume":"179","author":"JT Wright","year":"2019","unstructured":"Wright JT, Fete M, Schneider H, et al. 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