{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,2]],"date-time":"2025-12-02T03:21:19Z","timestamp":1764645679644,"version":"3.40.5"},"reference-count":34,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2023,8,2]],"date-time":"2023-08-02T00:00:00Z","timestamp":1690934400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2023,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare autosomal recessive multisystem disorder that often presents with gastrointestinal and neurological symptoms. Here we report a 33\u2010year\u2010old male who presented with a 16\u2010year history of diarrhea with black stool and progressive weight loss. He complained of progressive bilateral blurred vision, upper eyelids heaviness, ocular motility impairment, and color blindness. Peripheral neuropathy, bilateral sensorineural deafness, hyperlactatemia, diabetes mellitus, hepatic steatosis, blood coagulation dysfunction, and diffuse leukoencephalopathy were detected in the systemic evaluation. Based on the novel homozygous pathogenic variant in the <jats:italic>TYMP<\/jats:italic> gene (c.1159+1G&gt;A), he was diagnosed with MNGIE. On ophthalmic examinations, the thickness of the inner retina and ganglion cell complex significantly decreased. ERG showed diffusely decreased amplitudes. The electronegative electroretinogram, which was first reported in MNGIE, indicated a more severe inner retina impairment. The bilateral papillomacular bundle defect and central vision loss in MNGIE are consistent with classical mitochondrial optic neuropathies' features. According to the literature, pigmentary retinopathy, optic neuropathy, and abnormal pupillary reflexes are uncommon ocular features of MNGIE. This study contributes to a better understanding of ocular manifestations in MNGIE and demonstrates that MNGIE may have dyschromatopsia and an electronegative electroretinogram.<\/jats:p>","DOI":"10.1002\/ajmg.a.63361","type":"journal-article","created":{"date-parts":[[2023,8,2]],"date-time":"2023-08-02T11:31:30Z","timestamp":1690975890000},"page":"2819-2824","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Ocular manifestations of mitochondrial neurogastrointestinal encephalomyopathy: A case report and literature review"],"prefix":"10.1002","volume":"191","author":[{"given":"Heng","family":"Wang","sequence":"first","affiliation":[{"name":"Department of Ophthalmology Peking Union Medical College Hospital, Chinese Academy of Medical Sciences &amp; Peking Union Medical College  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gechong","family":"Ruan","sequence":"additional","affiliation":[{"name":"Department of Gastroenterology Peking Union Medical College Hospital, Chinese Academy of Medical Sciences &amp; Peking Union Medical College  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shan","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology Peking Union Medical College Hospital, Chinese Academy of Medical Sciences &amp; Peking Union Medical College  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hui","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology Peking Union Medical College Hospital, Chinese Academy of Medical Sciences &amp; Peking Union Medical College  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zixi","family":"Sun","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology Peking Union Medical College Hospital, Chinese Academy of Medical Sciences &amp; Peking Union Medical College  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bowen","family":"Tian","sequence":"additional","affiliation":[{"name":"Department of Gastroenterology Peking Union Medical College Hospital, Chinese Academy of Medical Sciences &amp; Peking Union Medical College  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pengguang","family":"Yan","sequence":"additional","affiliation":[{"name":"Department of Gastroenterology Peking Union Medical College Hospital, Chinese Academy of Medical Sciences &amp; Peking Union Medical College  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yue","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Gastroenterology Peking Union Medical College Hospital, Chinese Academy of Medical Sciences &amp; Peking Union Medical College  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hong","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Gastroenterology Peking Union Medical College Hospital, Chinese Academy of Medical Sciences &amp; Peking Union Medical College  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9511-4726","authenticated-orcid":false,"given":"Yong","family":"Zhong","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology Peking Union Medical College Hospital, Chinese Academy of Medical Sciences &amp; Peking Union Medical College  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jiaming","family":"Qian","sequence":"additional","affiliation":[{"name":"Department of Gastroenterology Peking Union Medical College Hospital, Chinese Academy of Medical Sciences &amp; Peking Union Medical College  Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2023,8,2]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00417-004-0914-y"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-010-1237-0"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ophtha.2013.03.002"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1152\/ajpgi.00047.2021"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0197-0186(01)00129-2"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0038-1661411"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1097\/MCD.0000000000000250"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10633-021-09857-5"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/jimd.12300"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.44.4.721"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41433-021-01604-z"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/jmd2.12315"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.clineuro.2009.05.005"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.3760\/cma.j.issn.0376-2491.2012.39.006"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddn401"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.20615"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000324602.97205.ab"},{"key":"e_1_2_8_19_1","unstructured":"Optovue IncRTVue XR Avanti System. User Manual International Software Version 2017.1. (Release date: 11\/2017)."},{"key":"e_1_2_8_20_1","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2018.00669"},{"key":"e_1_2_8_21_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_8_22_1","doi-asserted-by":"publisher","DOI":"10.1111\/cxo.12529"},{"key":"e_1_2_8_23_1","doi-asserted-by":"publisher","DOI":"10.1097\/MD.0000000000002680"},{"key":"e_1_2_8_24_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10633-015-9484-z"},{"key":"e_1_2_8_25_1","doi-asserted-by":"publisher","DOI":"10.1242\/bio.025429"},{"key":"e_1_2_8_26_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-006-0255-3"},{"key":"e_1_2_8_27_1","doi-asserted-by":"publisher","DOI":"10.3892\/mmr.2013.1479"},{"key":"e_1_2_8_28_1","doi-asserted-by":"publisher","DOI":"10.1159\/000506187"},{"key":"e_1_2_8_29_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.febslet.2007.06.042"},{"key":"e_1_2_8_30_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2013.148"},{"key":"e_1_2_8_31_1","doi-asserted-by":"publisher","DOI":"10.1007\/s13760-016-0701-7"},{"key":"e_1_2_8_32_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12876-018-0881-0"},{"key":"e_1_2_8_33_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.preteyeres.2010.11.002"},{"key":"e_1_2_8_34_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00401-016-1625-2"},{"key":"e_1_2_8_35_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.preteyeres.2014.09.001"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.63361","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,13]],"date-time":"2023-11-13T11:06:50Z","timestamp":1699873610000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.63361"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,8,2]]},"references-count":34,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2023,12]]}},"alternative-id":["10.1002\/ajmg.a.63361"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.63361","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"type":"print","value":"1552-4825"},{"type":"electronic","value":"1552-4833"}],"subject":[],"published":{"date-parts":[[2023,8,2]]},"assertion":[{"value":"2023-04-28","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-07-19","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-08-02","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}