{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T16:32:01Z","timestamp":1787070721234,"version":"build-2736575974"},"reference-count":7,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"2","license":[{"start":{"date-parts":[[2025,5,1]],"date-time":"2025-05-01T00:00:00Z","timestamp":1746057600000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-sa\/4.0"}],"content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2025,5]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Gyrate atrophy (GA) of the choroid and retina is a rare autosomal recessive inherited disease characterized by elevation of plasma ornithine levels due to deficiency of the mitochondrial enzyme\n                    <jats:italic toggle=\"yes\">ornithine aminotransferase<\/jats:italic>\n                    resulting in progressive chorioretinal atrophy, nyctalopia, and possibly blindness. This report presents the case of a 7-year-old Vietnamese boy with no history of trauma and a complaint of sudden visual loss over the past 6 weeks. Fundus examination showed vitreous hemorrhage in the right eye and chorioretinal atrophy with hyperpigmented margins in the periphery retina of the left eye. Based on the high serum ornithine level and compound heterozygous mutations detected in the\n                    <jats:italic toggle=\"yes\">ornithine aminotransferase<\/jats:italic>\n                    (\n                    <jats:italic toggle=\"yes\">OAT<\/jats:italic>\n                    ) gene of the patient, he was diagnosed with GA. The patient underwent a right eye vitrectomy and was supplemented with Vitamin B6 and an arginine-restricted diet. Four months after surgery, the patient\u2019s visual acuity was significantly improved, and there was no progression of chorioretinal atrophy or recurrent vitreous hemorrhage. GA is an extremely rare disease and difficult to diagnose, especially when accompanied by vitreous hemorrhage. Combining genetic tests with clinical examinations helped diagnose accurately, and prompt treatment could restore the patient\u2019s visual function.\n                  <\/jats:p>","DOI":"10.4103\/ojo.ojo_247_24","type":"journal-article","created":{"date-parts":[[2025,6,24]],"date-time":"2025-06-24T07:00:13Z","timestamp":1750748413000},"page":"208-211","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":0,"title":["Gyrate atrophy of the choroid and retina with vitreous hemorrhage complication in a Vietnamese child"],"prefix":"10.4103","volume":"18","author":[{"given":"Nguyen","family":"Minh-Phu","sequence":"first","affiliation":[{"name":"Department of Pediatric Ophthalmology, Vietnam National Eye Hospital, Hanoi, Vietnam"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nguyen Hanh","family":"Giang","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Hanoi Medical University, Hanoi, Vietnam"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nguyen","family":"Ngan-Ha","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Hanoi Medical University, Hanoi, Vietnam"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nguyen Huu Hong","family":"Thu","sequence":"additional","affiliation":[{"name":"Genome Analysis Laboratory, Institute of Genome Research, Vietnam Academy of Science and Technology, Hanoi, Vietnam"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nguyen Hai","family":"Ha","sequence":"additional","affiliation":[{"name":"Genome Analysis Laboratory, Institute of Genome Research, Vietnam Academy of Science and Technology, Hanoi, Vietnam"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","published-online":{"date-parts":[[2025,6,24]]},"reference":[{"key":"R1-20250628","doi-asserted-by":"crossref","first-page":"1031","DOI":"10.1016\/S0140-6736(73)90667-3","article-title":"Raised plasma-ornithine and gyrate atrophy of the choroid and retina","volume":"1","author":"Simell","year":"1973","journal-title":"Lancet"},{"key":"R2-20250628","doi-asserted-by":"crossref","first-page":"292","DOI":"10.1016\/S0161-6420(81)35031-3","article-title":"The natural history of gyrate atrophy of the choroid and retina","volume":"88","author":"Takki","year":"1981","journal-title":"Ophthalmology"},{"key":"R3-20250628","doi-asserted-by":"crossref","first-page":"300","DOI":"10.1080\/13816810.2020.1870149","article-title":"Variable phenotypes of gyrate atrophy in siblings with a nonsense mutation in OAT gene","volume":"42","author":"Sen","year":"2021","journal-title":"Ophthalmic Genet"},{"key":"R4-20250628","first-page":"170","article-title":"Gyrate atrophy of choroid and retina complicated by vitreous hemorrhage","volume":"29","author":"Takahashi","year":"1985","journal-title":"Jpn J Ophthalmol"},{"key":"R5-20250628","doi-asserted-by":"crossref","first-page":"2753","DOI":"10.1172\/JCI118730","article-title":"A mouse model of gyrate atrophy of the choroid and retina. Early retinal pigment epithelium damage and progressive retinal degeneration","volume":"97","author":"Wang","year":"1996","journal-title":"J Clin Invest"},{"key":"R6-20250628","doi-asserted-by":"crossref","DOI":"10.1136\/bcr.07.2010.3200","article-title":"Gyrate atrophy of the choroid and retina with hyperornithinemia, cystinuria and lysinuria responsive to Vitamin B6","author":"Tanzer","year":"2011","journal-title":"BMJ Case Rep 2011"},{"key":"R7-20250628","first-page":"480","article-title":"Whole exome sequencing revealed novel pathogenic variants in Vietnamese patients with FEVR","volume":"28","author":"Trang","year":"2022","journal-title":"Mol Vis"}],"container-title":["Oman Journal of Ophthalmology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.ovid.com\/10.4103\/ojo.ojo_247_24","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T15:35:24Z","timestamp":1787067324000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ovid.com\/10.4103\/ojo.ojo_247_24"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,5]]},"references-count":7,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2025]]}},"URL":"https:\/\/doi.org\/10.4103\/ojo.ojo_247_24","relation":{},"ISSN":["0974-620X","0974-7842"],"issn-type":[{"value":"0974-620X","type":"print"},{"value":"0974-7842","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,5]]},"assertion":[{"value":"2024-08-07","name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-02-25","name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}}]}}