{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T16:06:08Z","timestamp":1790697968710,"version":"4.1.0"},"reference-count":15,"publisher":"SAGE Publications","issue":"5","license":[{"start":{"date-parts":[[2020,4,10]],"date-time":"2020-04-10T00:00:00Z","timestamp":1586476800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"funder":[{"DOI":"10.13039\/100001818","name":"Search for Vision","doi-asserted-by":"publisher","award":["Departmental fund"],"award-info":[{"award-number":["Departmental fund"]}],"id":[{"id":"10.13039\/100001818","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Journal of VitreoRetinal Diseases"],"published-print":{"date-parts":[[2020,10]]},"abstract":"<jats:sec>\n                    <jats:title>Purpose:<\/jats:title>\n                    <jats:p>We demonstrate that Crumbs homologue 1 ( CRB1) maculopathy should be considered in the differential of petaloid pigmentary changes in the macula of young children with good vision who may be asymptomatic.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods:<\/jats:title>\n                    <jats:p>We report on 2 unrelated male patients presenting at a young age with decreased vision from a macular dystrophy due to biallelic CRB1 mutations.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results:<\/jats:title>\n                    <jats:p>In addition to a previously described pathogenic variant, Ile167Gly169del, 2 new pathogenic missense variants in CRB1, Thr745Met and Cys948Tyr, are reported here.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions:<\/jats:title>\n                    <jats:p>Although CRB1 mutations have been more commonly described in retinitis pigmentosa and Leber congenital amaurosis, we demonstrate that mutations in CRB1 can cause a maculopathy in which initial features can resemble juvenile X-linked retinoschisis. We show that the accompanying macular edema is responsive to carbonic anhydrase inhibitors. With long-term follow-up for each case, we illustrate the natural history of CRB1 maculopathy based on clinical examination and diagnostic imaging.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1177\/2474126420916079","type":"journal-article","created":{"date-parts":[[2020,4,10]],"date-time":"2020-04-10T12:36:10Z","timestamp":1586522170000},"page":"437-440","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":4,"title":["Simplex Crumbs Homologue 1 Maculopathy Masquerading as Juvenile X-Linked Retinoschisis in Male Patients"],"prefix":"10.1177","volume":"4","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3194-500X","authenticated-orcid":false,"given":"Daniel J.","family":"Oh","sequence":"first","affiliation":[{"name":"Department of Ophthalmology and Visual Sciences, University of Illinois at Chicago, Chicago, IL, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Veeral","family":"Sheth","sequence":"additional","affiliation":[{"name":"University Retina, Oak Forest, IL, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gerald A.","family":"Fishman","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology and Visual Sciences, University of Illinois at Chicago, Chicago, IL, USA"},{"name":"The Chicago Lighthouse, Chicago, IL, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael A.","family":"Grassi","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology and Visual Sciences, University of Illinois at Chicago, Chicago, IL, USA"},{"name":"Grassi Retina, Naperville, IL, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2020,4,10]]},"reference":[{"key":"bibr1-2474126420916079","doi-asserted-by":"publisher","DOI":"10.1016\/j.ophtha.2017.01.047"},{"key":"bibr2-2474126420916079","doi-asserted-by":"publisher","DOI":"10.1001\/archopht.119.3.415"},{"key":"bibr3-2474126420916079","doi-asserted-by":"publisher","DOI":"10.1016\/j.ophtha.2014.03.010"},{"key":"bibr4-2474126420916079","author":"Al Sulaiman H","journal-title":"Retin Cases Brief Rep"},{"key":"bibr5-2474126420916079","doi-asserted-by":"publisher","DOI":"10.1001\/jamaophthalmol.2015.2814"},{"key":"bibr6-2474126420916079","doi-asserted-by":"publisher","DOI":"10.3109\/13816810.2016.1155225"},{"key":"bibr7-2474126420916079","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21653"},{"key":"bibr8-2474126420916079","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.3412-14.2015"},{"key":"bibr9-2474126420916079","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddg232"},{"key":"bibr10-2474126420916079","doi-asserted-by":"publisher","DOI":"10.1002\/bies.10129"},{"key":"bibr11-2474126420916079","doi-asserted-by":"publisher","DOI":"10.1006\/dbio.1996.0157"},{"key":"bibr12-2474126420916079","doi-asserted-by":"publisher","DOI":"10.1242\/jcs.01301"},{"key":"bibr13-2474126420916079","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddg117"},{"key":"bibr14-2474126420916079","doi-asserted-by":"publisher","DOI":"10.1016\/j.survophthal.2012.11.006"},{"key":"bibr15-2474126420916079","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.15-18281"}],"container-title":["Journal of VitreoRetinal Diseases"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/2474126420916079","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/2474126420916079","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/2474126420916079","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T15:25:18Z","timestamp":1790695518000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/2474126420916079"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,4,10]]},"references-count":15,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2020,10]]}},"alternative-id":["10.1177\/2474126420916079"],"URL":"https:\/\/doi.org\/10.1177\/2474126420916079","relation":{},"ISSN":["2474-1264","2474-1272"],"issn-type":[{"value":"2474-1264","type":"print"},{"value":"2474-1272","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,4,10]]}}}