{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,1]],"date-time":"2026-05-01T15:58:56Z","timestamp":1777651136610,"version":"3.51.4"},"reference-count":26,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T00:00:00Z","timestamp":1777334400000},"content-version":"vor","delay-in-days":117,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,1,1]],"date-time":"2026-01-01T00:00:00Z","timestamp":1767225600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100003478","name":"Ministry of Health, Labour and Welfare","doi-asserted-by":"publisher","award":["JPMH23FC1056"],"award-info":[{"award-number":["JPMH23FC1056"]}],"id":[{"id":"10.13039\/501100003478","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003478","name":"Ministry of Health, Labour and Welfare","doi-asserted-by":"publisher","award":["JPMH23FC1043"],"award-info":[{"award-number":["JPMH23FC1043"]}],"id":[{"id":"10.13039\/501100003478","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","award":["JP24K12771"],"award-info":[{"award-number":["JP24K12771"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","award":["JP25K20191"],"award-info":[{"award-number":["JP25K20191"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Case Reports in Ophthalmological Medicine"],"published-print":{"date-parts":[[2026,1]]},"abstract":"<jats:sec>\n                    <jats:title>Purpose<\/jats:title>\n                    <jats:p>\n                      The purpose of this study is to report a case of gyrate atrophy of the choroid and retina (GA) in a patient with a homozygous\n                      <jats:italic>OAT<\/jats:italic>\n                      variant who was unable to continue treatment due to loss to follow\u2010up.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Case Presentation<\/jats:title>\n                    <jats:p>\n                      A 21\u2010year\u2010old female patient (JU1902) from South Asia was referred to The Jikei University Hospital for clinical and genetic evaluation. She underwent comprehensive ophthalmic examinations and whole\u2010exome sequencing. Genetic analysis identified a homozygous variant in the\n                      <jats:italic>OAT<\/jats:italic>\n                      gene: a c.272G\u2009&gt;\u2009A (p.Gly91Glu). Fundus photography showed sharply demarcated circular areas of chorioretinal atrophy in the peripheral retina. Fundus autofluorescence imaging revealed hypoautofluorescence corresponding to these atrophic areas. Optical coherence tomography showed multiple intraretinal cystic spaces with preservation of the outer retinal layers, including the ellipsoid zone. Goldmann perimetry revealed a markedly constricted visual field, with the I\u20102 isopter restricted to less than 5\u00b0 and the I\u20104 isopter within 10\u00b0\u201320\u00b0. Full\u2010field electroretinography demonstrated norecordable responses under all stimulus conditions. Biochemical testing indicated markedly elevated serum and urinary ornithine concentrations. Following the genetic and clinical diagnosis, vitamin B6 supplementation was initiated at 100\u2009mg\/day. However, serum ornithine levels remained markedly elevated. Although an increased dosage of vitamin B6 (200\u2009mg\/day) and an arginine\u2010restricted diet were considered, the patient voluntarily discontinued follow\u2010up visits and was subsequently lost to follow\u2010up.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>This case highlights the importance of continued treatment and follow\u2010up in adult patients with GA. Forming a patient\u2010centered multidisciplinary team, including professional interpreters and cultural liaisons, is essential for ensuring patient understanding, treatment adherence, and long\u2010term visual preservation.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1155\/crop\/8380205","type":"journal-article","created":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T06:50:17Z","timestamp":1777445417000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Gyrate Atrophy of the Choroid and Retina Diagnosed in Adulthood With a Homozygous\n                    <i>OAT<\/i>\n                    Variant: A Case Report Highlighting the Need for Long\u2010Term Care"],"prefix":"10.1155","volume":"2026","author":[{"ORCID":"https:\/\/orcid.org\/0009-0001-7370-6114","authenticated-orcid":false,"given":"Hitomi","family":"Taniai","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5389-6507","authenticated-orcid":false,"given":"Kei","family":"Mizobuchi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takaaki","family":"Hara","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1535-0279","authenticated-orcid":false,"given":"Takaaki","family":"Hayashi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tadashi","family":"Nakano","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2026,4,28]]},"reference":[{"key":"e_1_2_11_1_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(18)68219-5"},{"key":"e_1_2_11_2_2","first-page":"365","article-title":"The Ornithine Aminotransferase (OAT) Locus: Analysis of RFLPs in Gyrate Atrophy","volume":"42","author":"Ramesh V.","year":"1988","journal-title":"American Journal of Human Genetics"},{"key":"e_1_2_11_3_2","doi-asserted-by":"publisher","DOI":"10.1159\/000132606"},{"key":"e_1_2_11_4_2","first-page":"1001","article-title":"Expression Defect of Ornithine Aminotransferase Gene in Gyrate Atrophy","volume":"29","author":"Inana G.","year":"1988","journal-title":"Investigative Ophthalmology & Visual Science"},{"key":"e_1_2_11_5_2","doi-asserted-by":"publisher","DOI":"10.1172\/JCI113365"},{"key":"e_1_2_11_6_2","doi-asserted-by":"publisher","DOI":"10.3390\/biology6010018"},{"key":"e_1_2_11_7_2","doi-asserted-by":"publisher","DOI":"10.1097\/00004397-199303320-00021"},{"key":"e_1_2_11_8_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.7444439"},{"key":"e_1_2_11_9_2","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1016\/S0161-6420(81)35033-7","article-title":"Visual Results of a Long-Term Trial of a Low-Arginine Diet in Gyrate Atrophy of Choroid and Retina","volume":"88","author":"Kaiser-Kupfer M. 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