{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,22]],"date-time":"2026-06-22T10:56:06Z","timestamp":1782125766469,"version":"3.54.5"},"reference-count":28,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2023,1,3]],"date-time":"2023-01-03T00:00:00Z","timestamp":1672704000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2023,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The purpose of this article is to determine the cause of Leber congenital amaurosis (LCA) in Chuuk state, Federated States of Micronesia (FSM). In this prospective observational case series, five patients with early\u2010onset vision loss were examined in Chuuk state, FSM, during an ocular genetics visit to study the elevated incidence of microphthalmia. Because of their low vision these patients were incorrectly assumed to have microphthalmia. A complete ophthalmological exam established a clinical diagnosis of LCA. Candidate gene exons were sequenced with a targeted retinal dystrophy panel. Five subjects in three related families were diagnosed with LCA. All five were from Tonoas Island, within the Chuuk Lagoon, with ages ranging from 6\u00a0months to 16\u2009years. DNA sequencing of affected individuals revealed a homozygous <jats:italic>CRB1<\/jats:italic> NM_201253.3:c.3134del pathogenic variant, which was heterozygous in their parents. <jats:italic>CRB1<\/jats:italic> genotypes were confirmed by a PCR restriction assay. We report identification of a founder pathogenic variant in <jats:italic>CRB1<\/jats:italic> responsible for autosomal recessive LCA in this isolated community. This discovery will lead to appropriate recurrence risk counseling.<\/jats:p>","DOI":"10.1002\/ajmg.a.63108","type":"journal-article","created":{"date-parts":[[2023,1,3]],"date-time":"2023-01-03T19:53:21Z","timestamp":1672775601000},"page":"1007-1012","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Novel <scp><i>CRB1<\/i><\/scp> pathogenic variant in <scp>Chuuk<\/scp> families with <scp>Leber<\/scp> congenital amaurosis"],"prefix":"10.1002","volume":"191","author":[{"given":"Amani","family":"Albakri","sequence":"first","affiliation":[{"name":"Pediatric and Ocular Genetics Wills Eye Hospital  Philadelphia Pennsylvania USA"},{"name":"Division of Pediatric Ophthalmology King Khaled Eye Specialist Hospital  Riyadh Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Phattrawan","family":"Pisuchpen","sequence":"additional","affiliation":[{"name":"Pediatric and Ocular Genetics Wills Eye Hospital  Philadelphia Pennsylvania USA"},{"name":"Department of Ophthalmology, Faculty of Medicine Chulalongkorn University and King Chulalongkorn Memorial Hospital, the Thai Red Cross Society  Bangkok Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jenina E.","family":"Capasso","sequence":"additional","affiliation":[{"name":"Pediatric and Ocular Genetics Wills Eye Hospital  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adele","family":"Schneider","sequence":"additional","affiliation":[{"name":"Pediatric and Ocular Genetics Wills Eye Hospital  Philadelphia Pennsylvania USA"},{"name":"Division of Genetics Einstein Healthcare Network  Philadelphia Pennsylvania USA"},{"name":"Sidney Kimmel Medical College Thomas Jefferson University  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarina","family":"Kopinsky","sequence":"additional","affiliation":[{"name":"Division of Genetics Einstein Healthcare Network  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1000-2301","authenticated-orcid":false,"given":"Tom","family":"Glaser","sequence":"additional","affiliation":[{"name":"Department of Cell Biology &amp; Human Anatomy University of California  Davis California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John P.\u2010W.","family":"Chiang","sequence":"additional","affiliation":[{"name":"Molecular Vision Lab  Hillsboro Oregon USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anamaria Akapito","family":"Yomai","sequence":"additional","affiliation":[{"name":"State Department of Health Services  Weno Chuuk Federated States of Micronesia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Donna","family":"McNear","sequence":"additional","affiliation":[{"name":"Independent Educational Consultant  Cambridge Minnesota USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alex V.","family":"Levin","sequence":"additional","affiliation":[{"name":"Pediatric and Ocular Genetics Wills Eye Hospital  Philadelphia Pennsylvania USA"},{"name":"Sidney Kimmel Medical College Thomas Jefferson University  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,1,3]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.3109\/13816810.2013.838273"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21653"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1586\/14737159.2015.1081057"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaapos.2009.10.004"},{"key":"e_1_2_9_6_1","unstructured":"Chuuk State Census Report 2000. 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