{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T19:23:37Z","timestamp":1787772217686,"version":"build-2784847793"},"reference-count":13,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"Suppl 3","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2024,5]]},"abstract":"<jats:sec>\n                    <jats:title>Purpose:<\/jats:title>\n                    <jats:p>Mutations of G protein-coupled receptor 143 (GPR143) and FERM domain containing 7 (FRMD7) may result in congenital nystagmus (CN) in the first 6 months of life. We aimed to compare the differences in ocular oscillations between patients with these two gene mutations as well as the functional and structural changes in their retinas and visual pathways.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods:<\/jats:title>\n                    <jats:p>\n                      Medical records were retrospectively reviewed to identify patients of congenital nystagmus with confirmed mutations in either\n                      <jats:italic toggle=\"yes\">GPR143<\/jats:italic>\n                      or\n                      <jats:italic toggle=\"yes\">FMRD7<\/jats:italic>\n                      genes from January 2018 to May 2023. The parameters of the ocular oscillations were recorded using Eyelink 1000 Plus. The retinal structure and function were evaluated using optical coherence tomography and multi-focal electroretinography (mERG). The visual pathway and optical nerve projection were evaluated using visual evoked potentials. The next-generation sequencing technique was used to identify the pathogenic variations in the disease-causing genes for CN.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results:<\/jats:title>\n                    <jats:p>\n                      Twenty nystagmus patients of GPR143 and 21 patients of FMRD7 who had been confirmed by molecular testing between January 2018 and May 2023 were included. Foveal hypoplasia was detected only in patients with the\n                      <jats:italic toggle=\"yes\">GPR143<\/jats:italic>\n                      pathogenic variant. mERG examination showed a flat response topography in the GPR143 group compared to the FRMD7 group. VEP showed that bilateral amplitude inconsistency was detected only in the patients with\n                      <jats:italic toggle=\"yes\">GPR143<\/jats:italic>\n                      gene mutation. The amplitude and frequency of the ocular oscillations were not found to differ between patients with two different genetic mutations.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions:<\/jats:title>\n                    <jats:p>\n                      Although the etiology and molecular mechanisms are completely different between CN patients, they may have similar ocular oscillations. A careful clinical examination and electrophysiological test will be helpful in making a differential diagnosis. Our novel identified variants will further expand the spectrum of the\n                      <jats:italic toggle=\"yes\">GPR143<\/jats:italic>\n                      and\n                      <jats:italic toggle=\"yes\">FRMD7<\/jats:italic>\n                      variants.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.4103\/ijo.ijo_3141_23","type":"journal-article","created":{"date-parts":[[2024,4,20]],"date-time":"2024-04-20T04:01:22Z","timestamp":1713585682000},"page":"S509-S513","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":2,"title":["Differences of ocular oscillations and neuro-retinal structures in patients with nystagmus caused by GPR143 and FRMD7 gene variants"],"prefix":"10.4103","volume":"72","author":[{"given":"Lijuan","family":"Huang","sequence":"first","affiliation":[{"name":"Department of Ophthalmology, The Second Affiliated Hospital of Fujian Medical University, Quanzhou, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Biru","family":"Xu","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, The Second Affiliated Hospital of Fujian Medical University, Quanzhou, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ningdong","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, The Second Affiliated Hospital of Fujian Medical University, Quanzhou, China"},{"name":"Department of Ophthalmology, Shanghai General Hospital, Shanghai, China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","published-online":{"date-parts":[[2024,4,20]]},"reference":[{"key":"R1-20260504","doi-asserted-by":"crossref","first-page":"798","DOI":"10.1001\/jama.2020.3911","article-title":"Nystagmus","volume":"325","author":"Kates","year":"2021","journal-title":"JAMA"},{"key":"R2-20260504","doi-asserted-by":"crossref","first-page":"341","DOI":"10.1016\/j.pedneo.2014.02.007","article-title":"Nystagmus in childhood","volume":"55","author":"Papageorgiou","year":"2014","journal-title":"Pediatr Neonatol"},{"key":"R3-20260504","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1097\/WCO.0000000000000058","article-title":"Aetiology of infantile nystagmus","volume":"27","author":"Gottlob","year":"2014","journal-title":"Curr Opin Neurol"},{"key":"R4-20260504","doi-asserted-by":"crossref","first-page":"3181","DOI":"10.1167\/iovs.18-24207","article-title":"Genotype and phenotype spectrum of FRMD7-associated infantile 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Sci"},{"key":"R11-20260504","doi-asserted-by":"crossref","first-page":"4086","DOI":"10.1093\/hmg\/ddu122","article-title":"Abnormal retinal development associated with FRMD7 mutations","volume":"23","author":"Thomas","year":"2014","journal-title":"Hum Mol Genet"},{"key":"R12-20260504","doi-asserted-by":"crossref","first-page":"2105","DOI":"10.1093\/hmg\/ddt060","article-title":"A novel interaction between FRMD7 and CASK: Evidence for a causal role in idiopathic infantile nystagmus","volume":"22","author":"Watkins","year":"2013","journal-title":"Hum Mol Genet"},{"key":"R13-20260504","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1167\/iovs.61.5.41","article-title":"FRMD7 mutations disrupt the interaction with GABRA2 and may result in infantile nystagmus syndrome","volume":"61","author":"Jiang","year":"2020","journal-title":"Invest Ophthalmol Vis Sci"}],"container-title":["Indian Journal of Ophthalmology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.ovid.com\/10.4103\/IJO.IJO_3141_23","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T18:33:36Z","timestamp":1787769216000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ovid.com\/10.4103\/IJO.IJO_3141_23"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,4,20]]},"references-count":13,"journal-issue":{"issue":"Suppl 3","published-print":{"date-parts":[[2024]]}},"URL":"https:\/\/doi.org\/10.4103\/ijo.ijo_3141_23","relation":{},"ISSN":["0301-4738","1998-3689"],"issn-type":[{"value":"0301-4738","type":"print"},{"value":"1998-3689","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,4,20]]},"assertion":[{"value":"2023-11-30","name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-03-19","name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}}]}}