{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,26]],"date-time":"2026-06-26T10:59:34Z","timestamp":1782471574408,"version":"3.54.5"},"reference-count":34,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2024,4,16]],"date-time":"2024-04-16T00:00:00Z","timestamp":1713225600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100009633","name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development","doi-asserted-by":"publisher","award":["R01HD095968"],"award-info":[{"award-number":["R01HD095968"]}],"id":[{"id":"10.13039\/100009633","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100006108","name":"National Center for Advancing Translational Sciences","doi-asserted-by":"publisher","award":["UL1TR000128"],"award-info":[{"award-number":["UL1TR000128"]}],"id":[{"id":"10.13039\/100006108","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100006108","name":"National Center for Advancing Translational Sciences","doi-asserted-by":"publisher","award":["UL1TR001857"],"award-info":[{"award-number":["UL1TR001857"]}],"id":[{"id":"10.13039\/100006108","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2024,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Long chain 3\u2010hydroxyacyl\u2010CoA dehydrogenase (LCHADD) is the only fatty acid oxidation disorder to develop a progressive chorioretinopathy resulting in vision loss; newborn screening (NBS) for this disorder began in the United States around 2004. We compared visual outcomes among 40 participants with LCHADD or trifunctional protein deficiency diagnosed symptomatically to those who were diagnosed via NBS or a family history. Participants completed ophthalmologic testing including measures of visual acuity, electroretinograms (ERG), fundal imaging, contrast sensitivity, and visual fields. Records were reviewed to document medical and treatment history. Twelve participants presented symptomatically with hypoglycemia, failure to thrive, liver dysfunction, cardiac arrest, or rhabdomyolysis. Twenty eight were diagnosed by NBS or due to a family history of LCHADD. Participants diagnosed symptomatically were older but had similar percent males and genotypes as those diagnosed by NBS. Treatment consisted of fasting avoidance, dietary long\u2010chain fat restriction, MCT, C7, and\/or carnitine supplementation. Visual acuity, rod\u2010 and cone\u2010driven amplitudes on ERG, contrast sensitivity scores, and visual fields were all significantly worse among participants diagnosed symptomatically compared to NBS. In mixed\u2010effects models, both age and presentation (symptomatic vs. NBS) were significant independent factors associated with visual outcomes. This suggests that visual outcomes were improved by NBS, but there was still lower visual function with advancing age in both groups. Early diagnosis and treatment by NBS is associated with improved visual outcomes and retinal function compared to participants who presented symptomatically. Despite the impact of early intervention, chorioretinopathy was greater with advancing age, highlighting the need for novel treatments.<\/jats:p>","DOI":"10.1002\/jimd.12738","type":"journal-article","created":{"date-parts":[[2024,4,16]],"date-time":"2024-04-16T07:57:00Z","timestamp":1713254220000},"page":"746-756","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Early diagnosis and treatment by newborn screening (<scp>NBS<\/scp>) or family history is associated with improved visual outcomes for long\u2010chain <scp>3\u2010hydroxyacylCoA<\/scp> dehydrogenase deficiency (<scp>LCHADD<\/scp>) chorioretinopathy"],"prefix":"10.1002","volume":"47","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0897-8268","authenticated-orcid":false,"given":"Melanie B.","family":"Gillingham","sequence":"first","affiliation":[{"name":"Department of Molecular and Medical Genetics Oregon Health &amp; Science University  Portland Oregon USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dongseok","family":"Choi","sequence":"additional","affiliation":[{"name":"OHSU\u2010PSU School of Public Health, Biostatistics Oregon Health &amp; Science University  Portland Oregon USA"},{"name":"Casey Eye Institute Oregon Health &amp; Science University  Portland Oregon USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ashley","family":"Gregor","sequence":"additional","affiliation":[{"name":"Department of Molecular and Medical Genetics Oregon Health &amp; Science University  Portland Oregon USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nida","family":"Wongchaisuwat","sequence":"additional","affiliation":[{"name":"Casey Eye Institute Oregon Health &amp; Science University  Portland Oregon USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Danielle","family":"Black","sequence":"additional","affiliation":[{"name":"Division of Genetic and Genomic Medicine University of Pittsburgh Medical Center Children's Hospital of Pittsburgh  Pittsburgh Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hannah L.","family":"Scanga","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology University of Pittsburgh School of Medicine  Pittsburgh Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ken K.","family":"Nischal","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology University of Pittsburgh School of Medicine  Pittsburgh Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jose\u2010Alain","family":"Sahel","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology University of Pittsburgh School of Medicine  Pittsburgh Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Georgianne","family":"Arnold","sequence":"additional","affiliation":[{"name":"Division of Genetic and Genomic Medicine University of Pittsburgh Medical Center Children's Hospital of Pittsburgh  Pittsburgh Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jerry","family":"Vockley","sequence":"additional","affiliation":[{"name":"Division of Genetic and Genomic Medicine University of Pittsburgh Medical Center Children's Hospital of Pittsburgh  Pittsburgh Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cary O.","family":"Harding","sequence":"additional","affiliation":[{"name":"Department of Molecular and Medical Genetics Oregon Health &amp; Science University  Portland Oregon USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mark E.","family":"Pennesi","sequence":"additional","affiliation":[{"name":"Casey Eye Institute Oregon Health &amp; Science University  Portland Oregon USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,4,16]]},"reference":[{"key":"e_1_2_10_2_1","volume-title":"The Online Metabolic and Molecular Bases of Inherited Disease","author":"Vockley J","year":"2017"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1801252115"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI118863"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/0005-2760(94)90064-7"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2011.04.006"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/jimd.12502"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/jmd2.12279"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/jimd.12372"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ophtha.2016.06.048"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1080\/02713689808951227"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1080\/13816810.2024.2303682"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.14\u201014007"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-200210000-00021"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0161-6420(98)95019-9"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1203\/01.PDR.0000141967.52759.83"},{"key":"e_1_2_10_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2005.06.001"},{"key":"e_1_2_10_18_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600\u20100420.2007.01121.x"},{"key":"e_1_2_10_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2012.02.015"},{"key":"e_1_2_10_20_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436\u2010020\u201001070\u20100"},{"key":"e_1_2_10_21_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10633\u2010022\u201009872\u20100"},{"key":"e_1_2_10_22_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10633\u2010011\u20109296\u20108"},{"key":"e_1_2_10_23_1","article-title":"R: a language and environment for statistical computing. Foundation for statistical","author":"Team RC","year":"2023","journal-title":"Comput Secur"},{"key":"e_1_2_10_24_1","doi-asserted-by":"publisher","DOI":"10.1111\/apa.13313"},{"key":"e_1_2_10_25_1","doi-asserted-by":"publisher","DOI":"10.1007\/978\u20103\u2010319\u201095046\u20104_37"},{"key":"e_1_2_10_26_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.oret.2020.03.003"},{"key":"e_1_2_10_27_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M116.770784"},{"key":"e_1_2_10_28_1","doi-asserted-by":"publisher","DOI":"10.7554\/eLife.28899"},{"key":"e_1_2_10_29_1","volume-title":"The Online Metabolic and Molecular Bases of Inherited Disease","author":"Vockley J","year":"2019"},{"key":"e_1_2_10_30_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2020.09.001"},{"key":"e_1_2_10_31_1","doi-asserted-by":"publisher","DOI":"10.1097\/TIN.0b013e3181c62182"},{"key":"e_1_2_10_32_1","doi-asserted-by":"publisher","DOI":"10.15252\/emmm.202217033"},{"key":"e_1_2_10_33_1","doi-asserted-by":"publisher","DOI":"10.18240\/ijo.2017.03.24"},{"key":"e_1_2_10_34_1","first-page":"1","volume-title":"CADTH Issues in Emerging Health Technologies","author":"Patel U","year":"2016"},{"key":"e_1_2_10_35_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajoc.2023.101958"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jimd.12738","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,7,17]],"date-time":"2024-07-17T03:22:58Z","timestamp":1721186578000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/jimd.12738"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,4,16]]},"references-count":34,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2024,7]]}},"alternative-id":["10.1002\/jimd.12738"],"URL":"https:\/\/doi.org\/10.1002\/jimd.12738","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,4,16]]},"assertion":[{"value":"2023-12-21","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-03-27","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-04-16","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}