{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,24]],"date-time":"2026-07-24T03:56:35Z","timestamp":1784865395004,"version":"3.55.0"},"reference-count":18,"publisher":"SLACK, Inc.","issue":"7","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Ophthalmic Surg Lasers Imaging Retina"],"published-print":{"date-parts":[[2018,7]]},"abstract":"<jats:p>\n            The majority of X-linked retinitis pigmentosa (XLRP) is due to mutations in the retinitis pigmentosa GTPase regulator (\n            <jats:italic>RPGR<\/jats:italic>\n            ) gene. Determining the pathogenicity of novel variants is important for enrollment of patients into gene therapy trials. Sequencing and analysis of\n            <jats:italic>RPGR<\/jats:italic>\n            variants in ORF15 is challenging, as it is highly repetitive and rich in purines. Overlapping reading frames and polymorphic insertions \/ deletions add further complexity to the detection of mutations. Identifying systemic manifestations in affected males and carrier phenotype in related females expedites confirmation of pathogenic variants. The authors present a 16-year-old boy with a history of primary ciliary dyskinesia presenting with complaints of nyctalopia and visual field constriction. Multimodal imaging found peripheral thinning of the retina and a characteristic foveal hyperautofluorescent ring in the proband, and a carrier phenotype in the asymptomatic mother. A novel c.1059_1059+2delGGT, p.(?) variant in\n            <jats:italic>RPGR<\/jats:italic>\n            was identified as hemizygous in the affected boy and heterozygous in his mother. This case study expands the genotypic spectrum of\n            <jats:italic>RPGR<\/jats:italic>\n            variants associated with systemic manifestations.\n          <\/jats:p>\n          <jats:p>\n            <jats:bold>\n              [\n              <jats:italic>Ophthalmic Surg Lasers Imaging Retina<\/jats:italic>\n              . 2018;49:548\u2013552.]\n            <\/jats:bold>\n          <\/jats:p>","DOI":"10.3928\/23258160-20180628-14","type":"journal-article","created":{"date-parts":[[2018,7,18]],"date-time":"2018-07-18T18:25:38Z","timestamp":1531938338000},"page":"548-552","source":"Crossref","is-referenced-by-count":7,"title":["Novel Mutation in Retinitis Pigmentosa GTPase Regulator Gene Causes Primary Ciliary Dyskinesia and Retinitis Pigmentosa"],"prefix":"10.3928","volume":"49","author":[{"given":"Jesse D.","family":"Sengillo","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gabrielle","family":"Fridman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Galaxy Y.","family":"Cho","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christie","family":"Buchovecky","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephen H.","family":"Tsang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"2308","reference":[{"key":"e_1_3_1_2_2","doi-asserted-by":"publisher","DOI":"10.1001\/archopht.125.2.151"},{"key":"e_1_3_1_3_2","doi-asserted-by":"publisher","DOI":"10.1136\/bjophthalmol-2015-307698"},{"key":"e_1_3_1_4_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.visres.2007.08.005"},{"key":"e_1_3_1_5_2","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.02-1206"},{"key":"e_1_3_1_6_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/8.8.1571"},{"key":"e_1_3_1_7_2","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.09-4031"},{"key":"e_1_3_1_8_2","doi-asserted-by":"publisher","DOI":"10.1038\/78182"},{"key":"e_1_3_1_9_2","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.08-2009"},{"key":"e_1_3_1_10_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.exer.2013.05.003"},{"key":"e_1_3_1_11_2","doi-asserted-by":"publisher","DOI":"10.1002\/ppul.22632"},{"key":"e_1_3_1_12_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(1999)13:2<141::AID-HUMU6>3.0.CO;2-Q"},{"key":"e_1_3_1_13_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.11.e118"},{"key":"e_1_3_1_14_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2005.034868"},{"key":"e_1_3_1_15_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00197269"},{"key":"e_1_3_1_16_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.8.609"},{"key":"e_1_3_1_17_2","doi-asserted-by":"publisher","DOI":"10.2147\/OPTH.S89371"},{"key":"e_1_3_1_18_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ophtha.2015.05.039"},{"key":"e_1_3_1_19_2","doi-asserted-by":"publisher","DOI":"10.1186\/s12887-014-0299-y"}],"container-title":["Ophthalmic Surgery, Lasers and Imaging Retina"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.healio.com\/doiresolver?doi=10.3928\/23258160-20180628-14","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,2]],"date-time":"2023-05-02T19:59:11Z","timestamp":1683057551000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.healio.com\/doi\/10.3928\/23258160-20180628-14"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,7]]},"references-count":18,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2018,7]]}},"alternative-id":["10.3928\/23258160-20180628-14"],"URL":"https:\/\/doi.org\/10.3928\/23258160-20180628-14","relation":{},"ISSN":["2325-8160","2325-8179"],"issn-type":[{"value":"2325-8160","type":"print"},{"value":"2325-8179","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,7]]}}}