{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,8]],"date-time":"2026-03-08T16:35:16Z","timestamp":1772987716936,"version":"3.50.1"},"reference-count":11,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2025,5,27]],"date-time":"2025-05-27T00:00:00Z","timestamp":1748304000000},"content-version":"vor","delay-in-days":146,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2025,1,1]],"date-time":"2025-01-01T00:00:00Z","timestamp":1735689600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/100006733","name":"Indiana University","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100006733","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Case Reports in Genetics"],"published-print":{"date-parts":[[2025,1]]},"abstract":"<jats:p>\n                    Achromatopsia (ACHM) (MIM: 262300) is an autosomal recessive disorder characterized by reduced visual acuity and color blindness. In this report, we review the case of a 14\u2010year\u2010old male patient diagnosed with achromatopsia with a history of retinal dystrophy, cone dysfunction with normal dark\u2010adapted response on ERG, congenital nystagmus, farsightedness, and astigmatism. The diagnostic exome sequencing previously revealed a single maternally inherited pathogenic\n                    <jats:italic>CNGB3<\/jats:italic>\n                    variant (c.1148delC, p.(T383lfs\u221713). Following enrollment in the Undiagnosed Rare Disease Clinic (URDC) at Indiana University School of Medicine (IUSM), genome sequencing (GS) identified a second\n                    <jats:italic>CNGB3<\/jats:italic>\n                    known variant c.1663\u20101205G\u2009&gt;\u2009A p.(Gly555Leufs\u221733), which was classified as likely pathogenic. Identification of this variant in the patient provided the evidence needed for a molecular diagnosis and ended a 15\u2010year diagnostic odyssey for the patient and his family. With a diagnosis, the patient is eligible for gene therapy and qualifies for the state\u2010run Vocational Rehabilitation Program and bioptic driving.\n                  <\/jats:p>","DOI":"10.1155\/crig\/3466358","type":"journal-article","created":{"date-parts":[[2025,5,27]],"date-time":"2025-05-27T15:49:03Z","timestamp":1748360943000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Pathogenic Deep Intronic Variant in\n                    <i>CNGB3<\/i>\n                    Identified From Whole\u2010Genome Sequencing in an Unsolved Case of Patient Affected With Achromatopsia"],"prefix":"10.1155","volume":"2025","author":[{"given":"Matthew R.","family":"Gregory","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0792-5773","authenticated-orcid":false,"given":"Khurram","family":"Liaqat","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kayla","family":"Treat","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kathryn M.","family":"Haider","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francesco","family":"Vetrini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4831-6683","authenticated-orcid":false,"given":"Erin","family":"Conboy","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,5,27]]},"reference":[{"key":"e_1_2_10_1_2","doi-asserted-by":"publisher","DOI":"10.1136\/bjophthalmol-2014-306505"},{"key":"e_1_2_10_2_2","doi-asserted-by":"publisher","DOI":"10.1136\/bjo.2003.027102"},{"key":"e_1_2_10_3_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1755-3768.1991.tb02048.x"},{"key":"e_1_2_10_4_2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201269"},{"key":"e_1_2_10_5_2","doi-asserted-by":"publisher","DOI":"10.1038\/317064a0"},{"key":"e_1_2_10_6_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/9.14.2107"},{"key":"e_1_2_10_7_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23920"},{"key":"e_1_2_10_8_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-006-0314-y"},{"key":"e_1_2_10_9_2","doi-asserted-by":"publisher","DOI":"10.1111\/cge.14497"},{"key":"e_1_2_10_10_2","doi-asserted-by":"publisher","DOI":"10.1101\/mcs.a006254"},{"key":"e_1_2_10_11_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.63499"}],"container-title":["Case Reports in Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1155\/crig\/3466358","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1155\/crig\/3466358","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1155\/crig\/3466358","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,3,8]],"date-time":"2026-03-08T11:05:39Z","timestamp":1772967939000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1155\/crig\/3466358"}},"subtitle":[],"editor":[{"given":"Irfan","family":"Ahmad","sequence":"additional","affiliation":[],"role":[{"role":"editor","vocabulary":"crossref"}]}],"short-title":[],"issued":{"date-parts":[[2025,1]]},"references-count":11,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2025,1]]}},"alternative-id":["10.1155\/crig\/3466358"],"URL":"https:\/\/doi.org\/10.1155\/crig\/3466358","archive":["Portico"],"relation":{},"ISSN":["2090-6544","2090-6552"],"issn-type":[{"value":"2090-6544","type":"print"},{"value":"2090-6552","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,1]]},"assertion":[{"value":"2024-05-27","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-04-25","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-05-27","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"3466358"}}