{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T03:25:19Z","timestamp":1787023519464,"version":"build-2736575974"},"reference-count":0,"publisher":"Press of International Journal of Ophthalmology (IJO Press)","issue":"9","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Int J Ophthalmol"],"published-print":{"date-parts":[[2025,9,18]]},"abstract":"<jats:p>The phenotypes of the adenine-to-guanine transition at position 3243 of mitochondrial DNA (m.3243A&gt;G) are highly variable, with different symptoms observed in different patients. These include mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS); maternally inherited diabetes and deafness syndrome (MIDD); other syndromic conditions; or non-syndromic mitochondrial disorders. Renal involvement associated with this mutation generally manifests as subnephrotic proteinuria, progressive deterioration of kidney function, and increased morbidity. The retinopathies linked to the m.3243A&gt;G mutation have heterogeneous presentations, characterized by variable degrees of retinal pigment epithelium (RPE) atrophy and hyperpigmentation at the posterior pole. As a severe phenotype of the m.3243A&gt;G mutation, MELAS combined with focal and segmental glomerulosclerosis (FSGS) is rare. We herein firstly reported in detail the ophthalmic manifestations of a patient with this condition. Additionally, we reviewed the literature on fundus, ophthalmic electrophysiology, and optical coherence tomography (OCT) findings related to the m.3243A&gt;G mutation.<\/jats:p>","DOI":"10.18240\/ijo.2025.09.19","type":"journal-article","created":{"date-parts":[[2025,8,18]],"date-time":"2025-08-18T03:35:03Z","timestamp":1755488103000},"page":"1770-1776","source":"Crossref","is-referenced-by-count":1,"title":["Retinal multimodal-imaging and functional tests in a mitochondrial disease with focal and segmental glomerulosclerosis"],"prefix":"10.18240","volume":"18","author":[{"name":"Department of Ophthalmology, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200025, China","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiao-Hong","family":"Liu","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yi-Sheng","family":"Zhong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"Department of Ophthalmology, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200025, China","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"7543","container-title":["International Journal of Ophthalmology"],"original-title":[],"link":[{"URL":"http:\/\/ies.ijo.cn\/en_publish\/2025\/9\/20250919.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,22]],"date-time":"2025-08-22T02:36:10Z","timestamp":1755830170000},"score":1,"resource":{"primary":{"URL":"http:\/\/ies.ijo.cn\/gjyken\/ch\/reader\/view_abstract.aspx?file_no=20250919&flag=1"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,9,18]]},"references-count":0,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2025,9,18]]}},"URL":"https:\/\/doi.org\/10.18240\/ijo.2025.09.19","relation":{},"ISSN":["2222-3959","2227-4898"],"issn-type":[{"value":"2222-3959","type":"print"},{"value":"2227-4898","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,9,18]]}}}