{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,17]],"date-time":"2026-09-17T11:17:46Z","timestamp":1789643866862,"version":"4.0.0"},"reference-count":37,"publisher":"MDPI AG","issue":"8","license":[{"start":{"date-parts":[[2024,8,2]],"date-time":"2024-08-02T00:00:00Z","timestamp":1722556800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82070975"],"award-info":[{"award-number":["82070975"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82201204"],"award-info":[{"award-number":["82201204"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82101149"],"award-info":[{"award-number":["82101149"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["21ZR1411400"],"award-info":[{"award-number":["21ZR1411400"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100012543","name":"Shanghai Science and Technology Commission","doi-asserted-by":"publisher","award":["82070975"],"award-info":[{"award-number":["82070975"]}],"id":[{"id":"10.13039\/100012543","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100012543","name":"Shanghai Science and Technology Commission","doi-asserted-by":"publisher","award":["82201204"],"award-info":[{"award-number":["82201204"]}],"id":[{"id":"10.13039\/100012543","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100012543","name":"Shanghai Science and Technology Commission","doi-asserted-by":"publisher","award":["82101149"],"award-info":[{"award-number":["82101149"]}],"id":[{"id":"10.13039\/100012543","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100012543","name":"Shanghai Science and Technology Commission","doi-asserted-by":"publisher","award":["21ZR1411400"],"award-info":[{"award-number":["21ZR1411400"]}],"id":[{"id":"10.13039\/100012543","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>This study aimed to identify whether gyrate atrophy of the choroid and retina (GACR) heterozygous individuals have possible clinical manifestations and to explore the potential pathogenic mechanism. In this retrospective study, we surveyed a two-generation pedigree of an individual diagnosed with GACR. Two family members underwent ophthalmological, hematologic, and genetic tests. An arginine-restricted diet with vitamin B6 supplementation was implemented; clinical assessments were repeated every 3 months during follow-up. The relative OAT mRNA expression was determined using a real-time quantitative polymerase chain reaction. The 19-year-old compound heterozygous daughter (OAT: c.1186C&gt;T; c.748C&gt;T) had bilateral pathologic myopia, posterior staphyloma, chorioretinal atrophy, macular abnormalities, and elevated hematologic ornithine. The 54-year-old heterozygous mother (OAT: c.1186C&gt;T) presented with bilateral pathologic myopia, asymmetric posterior staphyloma, retina and choroidal capillary layer atrophy, retinal pigment epithelium abnormalities, and mildly elevated hematologic ornithine. Compared to normal individuals, the daughter and mother had 29% and 46% relative OAT mRNA expression, respectively (p &lt; 0.001). We believe that this is the first report of a carrier of one OAT variant allele exhibiting a mild phenotype, suggesting that family members should be aware of the possibility of clinical involvement in carriers with some autosomal recessive conditions. Additional data suggest that nonsense-mediated, decay-initiated mRNA degradation may cause GACR.<\/jats:p>","DOI":"10.3390\/genes15081020","type":"journal-article","created":{"date-parts":[[2024,8,2]],"date-time":"2024-08-02T16:14:58Z","timestamp":1722615298000},"page":"1020","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Mild Phenotypes of Gyrate Atrophy in a Heterozygous Carrier with One Variant Allele of OAT"],"prefix":"10.3390","volume":"15","author":[{"given":"Yuqiao","family":"Ju","sequence":"first","affiliation":[{"name":"Eye Institute and Department of Ophthalmology, Eye and ENT Hospital of Fudan University, Shanghai 200031, China"},{"name":"NHC Key Laboratory of Myopia and Related Eye Diseases, Key Laboratory of Myopia and Related Eye Diseases, Chinese Academy of Medical Sciences, Shanghai 200031, China"},{"name":"Shanghai Key Laboratory of Visual Impairment and Restoration, Shanghai 200031, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuan","family":"Zong","sequence":"additional","affiliation":[{"name":"Eye Institute and Department of Ophthalmology, Eye and ENT Hospital of Fudan University, Shanghai 200031, China"},{"name":"NHC Key Laboratory of Myopia and Related Eye Diseases, Key Laboratory of Myopia and Related Eye Diseases, Chinese Academy of Medical Sciences, Shanghai 200031, China"},{"name":"Shanghai Key Laboratory of Visual Impairment and Restoration, Shanghai 200031, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiao","family":"Li","sequence":"additional","affiliation":[{"name":"Eye Institute and Department of Ophthalmology, Eye and ENT Hospital of Fudan University, Shanghai 200031, China"},{"name":"NHC Key Laboratory of Myopia and Related Eye Diseases, Key Laboratory of Myopia and Related Eye Diseases, Chinese Academy of Medical Sciences, Shanghai 200031, China"},{"name":"Shanghai Key Laboratory of Visual Impairment and Restoration, Shanghai 200031, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fengjuan","family":"Gao","sequence":"additional","affiliation":[{"name":"Eye Institute and Department of Ophthalmology, Eye and ENT Hospital of Fudan University, Shanghai 200031, China"},{"name":"NHC Key Laboratory of Myopia and Related Eye Diseases, Key Laboratory of Myopia and Related Eye Diseases, Chinese Academy of Medical Sciences, Shanghai 200031, China"},{"name":"Shanghai Key Laboratory of Visual Impairment and Restoration, Shanghai 200031, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qing","family":"Chang","sequence":"additional","affiliation":[{"name":"Eye Institute and Department of Ophthalmology, Eye and ENT Hospital of Fudan University, Shanghai 200031, China"},{"name":"NHC Key Laboratory of Myopia and Related Eye Diseases, Key Laboratory of Myopia and Related Eye Diseases, Chinese Academy of Medical Sciences, Shanghai 200031, China"},{"name":"Shanghai Key Laboratory of Visual Impairment and Restoration, Shanghai 200031, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xin","family":"Huang","sequence":"additional","affiliation":[{"name":"Eye Institute and Department of Ophthalmology, Eye and ENT Hospital of Fudan University, Shanghai 200031, China"},{"name":"NHC Key Laboratory of Myopia and Related Eye Diseases, Key Laboratory of Myopia and Related Eye Diseases, Chinese Academy of Medical Sciences, Shanghai 200031, China"},{"name":"Shanghai Key Laboratory of Visual Impairment and Restoration, Shanghai 200031, China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2024,8,2]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1007\/978-3-319-95046-4_37","article-title":"Inborn errors of metabolism: Gyrate atrophy","volume":"1085","author":"Tsang","year":"2018","journal-title":"Adv. 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