{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,25]],"date-time":"2026-02-25T20:13:51Z","timestamp":1772050431050,"version":"3.50.1"},"reference-count":46,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2013,3,13]],"date-time":"2013-03-13T00:00:00Z","timestamp":1363132800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2013,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:label\/><jats:p>Keratoconus is a corneal dystrophy with progressive corneal thinning resulting in abnormal corneal shape and astigmatism. Corneal hydrops and rupture can occur and corneal transplant may become necessary. While keratoconus is rare in the general population occurring in about 1\/2,000 individuals, it is more common in individuals with intellectual disability and syndromic conditions. Connective tissue abnormalities, most typically brittle cornea syndrome, have frequently been reported in association with keratoconus. Here, we report on bilateral keratoconus with acute hydrops in the left eye of a 24\u2010year\u2010old male with Costello syndrome. The patient was treated medically. After resolution of the hydrops, he had significant visual impairment from the resulting irregular astigmatism and scarring. This is the second report of keratoconus in Costello syndrome, suggesting an increased risk for this corneal dystrophy in individuals with Costello syndrome. Ongoing ophthalmological surveillance may be necessary for adult individuals with Costello syndrome, and apparent vision changes should be evaluated expediently. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.35816","type":"journal-article","created":{"date-parts":[[2013,3,14]],"date-time":"2013-03-14T09:32:41Z","timestamp":1363253561000},"page":"1132-1136","source":"Crossref","is-referenced-by-count":8,"title":["Keratoconus in Costello Syndrome"],"prefix":"10.1002","volume":"161","author":[{"given":"Karen W.","family":"Gripp","sequence":"first","affiliation":[{"name":"Division of Medical Genetics A. I. duPont Hospital for Children Wilmington, Delaware"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laurie A.","family":"Demmer","sequence":"additional","affiliation":[{"name":"Division of Clinical Genetics Levine Children's Hospital Charlotte, North Carolina"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2013,3,13]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.3928\/01913913-20100106-06"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20326"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/bjo.2005.080101"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1641"},{"key":"e_1_2_6_6_1","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1177\/112067219300300210","article-title":"Noonan's syndrome with keratoconus and optic disc coloboma","volume":"3","author":"Ascaso FJ","year":"1993","journal-title":"Europ J Ophthalmol"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(81)80771-8"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.10-5625"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.05.007"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.11-9268"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20854"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1097\/00003226-199301000-00009"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0161-6420(91)32271-1"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320620203"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2011.203"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0008-4182(01)80018-1"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/eye.2009.217"},{"key":"e_1_2_6_18_1","first-page":"2482","article-title":"Mutational screening of VSX1, SPARC, SOD1, LOX, and TIMP3 in keratoconus","volume":"17","author":"De Bonis P","year":"2011","journal-title":"Mol Vis."},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33797"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-2008-1046097"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(20000313)91:2<141::AID-AJMG13>3.0.CO;2-6"},{"key":"e_1_2_6_22_1","first-page":"117","article-title":"Bardet\u2013Biedl syndrome and keratoconus","volume":"203","author":"Fran\u00e7ois J","year":"1982","journal-title":"Bull Soc Belge Ophtalmol"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1973.tb01115.x"},{"key":"e_1_2_6_24_1","unstructured":"GrippKW LinAE.2012a.Costello syndrome (January 2012) in: GeneReviews at GeneTests: Medical Genetics Information Resource [database online]. Copyright University of Washington Seattle 1997\u20132010. Available athttp:\/\/www.genetests.org"},{"key":"e_1_2_6_25_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.0b013e31822dd91f"},{"key":"e_1_2_6_26_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1755-3768.1992.tb02101.x"},{"key":"e_1_2_6_27_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/11.9.1029"},{"key":"e_1_2_6_28_1","doi-asserted-by":"publisher","DOI":"10.1086\/302829"},{"key":"e_1_2_6_29_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.09.014"},{"key":"e_1_2_6_30_1","doi-asserted-by":"publisher","DOI":"10.1097\/00003226-200401000-00017"},{"key":"e_1_2_6_31_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddr460"},{"key":"e_1_2_6_32_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33857"},{"key":"e_1_2_6_33_1","doi-asserted-by":"publisher","DOI":"10.1097\/00006324-199105000-00023"},{"key":"e_1_2_6_34_1","doi-asserted-by":"publisher","DOI":"10.1097\/00003226-199401000-00014"},{"key":"e_1_2_6_35_1","first-page":"59","article-title":"A new mutation in EDA gene in X\u2010linked hypohidrotic ectodermal dysplasia associated with keratoconus","volume":"1","author":"Piccione M","year":"2012","journal-title":"Minerva Pediatr"},{"key":"e_1_2_6_36_1","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1177\/112067210501500216","article-title":"Corneal graft rejection after penetrating keratoplasty for keratoconus in Turner's syndrome","volume":"15","author":"Pinna A","year":"2005","journal-title":"Eur J Ophthalmol"},{"key":"e_1_2_6_37_1","doi-asserted-by":"publisher","DOI":"10.3109\/13816810.2010.523038"},{"key":"e_1_2_6_38_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0039-6257(97)00119-7"},{"key":"e_1_2_6_39_1","first-page":"481","article-title":"Ocular anomalies in Alagille's syndrome","volume":"14","author":"Ricci B","year":"1991","journal-title":"J Fr Ophtalmol"},{"key":"e_1_2_6_40_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19970627)70:4<415::AID-AJMG16>3.0.CO;2-K"},{"key":"e_1_2_6_41_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9394(72)90466-7"},{"key":"e_1_2_6_42_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32639"},{"key":"e_1_2_6_43_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ophtha.2003.12.051"},{"key":"e_1_2_6_44_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320370210"},{"key":"e_1_2_6_45_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30747"},{"key":"e_1_2_6_46_1","first-page":"141","article-title":"Bilateral keratoconus in Crouzon's syndrome with unilateral acute hydrops","volume":"14","author":"Wolter JR","year":"1977","journal-title":"J Pediatr Ophthalmol"},{"key":"e_1_2_6_47_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.ico.0000226053.61884.91"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.35816","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.35816","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,30]],"date-time":"2023-10-30T01:31:39Z","timestamp":1698629499000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.35816"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,3,13]]},"references-count":46,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2013,5]]}},"alternative-id":["10.1002\/ajmg.a.35816"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.35816","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,3,13]]}}}