{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,9]],"date-time":"2026-10-09T17:36:01Z","timestamp":1791567361927,"version":"4.3.4"},"reference-count":40,"publisher":"MDPI AG","issue":"5","license":[{"start":{"date-parts":[[2022,5,16]],"date-time":"2022-05-16T00:00:00Z","timestamp":1652659200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Xuhui district health and family planning commission key disease joint project","award":["XHLHGG201807"],"award-info":[{"award-number":["XHLHGG201807"]}]},{"name":"Xuhui district health and family planning commission key disease joint project","award":["17411961900"],"award-info":[{"award-number":["17411961900"]}]},{"name":"Xuhui district health and family planning commission key disease joint project","award":["2018SHZDZX05"],"award-info":[{"award-number":["2018SHZDZX05"]}]},{"DOI":"10.13039\/501100003399","name":"Science and Technology Commission of Shanghai Municipality","doi-asserted-by":"publisher","award":["XHLHGG201807"],"award-info":[{"award-number":["XHLHGG201807"]}],"id":[{"id":"10.13039\/501100003399","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003399","name":"Science and Technology Commission of Shanghai Municipality","doi-asserted-by":"publisher","award":["17411961900"],"award-info":[{"award-number":["17411961900"]}],"id":[{"id":"10.13039\/501100003399","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003399","name":"Science and Technology Commission of Shanghai Municipality","doi-asserted-by":"publisher","award":["2018SHZDZX05"],"award-info":[{"award-number":["2018SHZDZX05"]}],"id":[{"id":"10.13039\/501100003399","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Shanghai municipal science and technology major projects","award":["XHLHGG201807"],"award-info":[{"award-number":["XHLHGG201807"]}]},{"name":"Shanghai municipal science and technology major projects","award":["17411961900"],"award-info":[{"award-number":["17411961900"]}]},{"name":"Shanghai municipal science and technology major projects","award":["2018SHZDZX05"],"award-info":[{"award-number":["2018SHZDZX05"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Familial amyloid polyneuropathy (FAP) caused by a genetic mutation in transthyretin (TTR) is an autosomal dominant hereditary disease. The retrospective, observational case series study presents the ocular clinicopathological findings of five cases carrying the TTR mutation c.401A&gt;G (p.Tyr134Cys). Multimodal retinal imaging and electrophysiological examination, Congo red staining and immunohistochemical analysis of specimens, and genetic analyses were performed. Cases 1 and 2 were symptomatic with vitreous and retinal amyloid deposition and poor visual recovery. Case 3 had a symptomatic vitreous haze in the left eye with good postoperative visual recovery. The right eye of case 3 and the eyes of cases 4 and 5 were asymptomatic. Thicker retinal nerve fiber layer, retinal venous tortuosity with prolonged arteriovenous passage time on fluorescein angiography and retinal dysfunction detected by multifocal electroretinogram occurred even in asymptomatic eyes. Moreover, the internal limiting membrane from patients with FAP was stained positive for Congo red and transforming growth factor-\u03b21. The results highlight the amyloid deposition of mutant TTR in the optic disc and retina, even in the asymptomatic stage. The deposited amyloid leads to increased resistance to venous return and retinal functional abnormalities. Therefore, careful follow-up of structural and functional changes in the retina is needed, even in asymptomatic patients with FAP.<\/jats:p>","DOI":"10.3390\/genes13050886","type":"journal-article","created":{"date-parts":[[2022,5,16]],"date-time":"2022-05-16T13:06:23Z","timestamp":1652706383000},"page":"886","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Ocular Manifestations in a Chinese Pedigree of Familial Amyloidotic Polyneuropathy Carrying the Transthyretin Mutation c.401A&gt;G (p.Tyr134Cys)"],"prefix":"10.3390","volume":"13","author":[{"given":"Xiaonan","family":"Zhuang","sequence":"first","affiliation":[{"name":"Department of Ophthalmology, Eye & ENT Hospital, Fudan University, Shanghai 200031, China"},{"name":"Shanghai Key Laboratory of Visual Impairment and Restoration, Fudan University, Shanghai 200031, China"},{"name":"NHC Key Laboratory of Myopia, Fudan University, Shanghai 200031, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhongcui","family":"Sun","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Eye & ENT Hospital, Fudan University, Shanghai 200031, China"},{"name":"Shanghai Key Laboratory of Visual Impairment and Restoration, Fudan University, Shanghai 200031, China"},{"name":"NHC Key Laboratory of Myopia, Fudan University, Shanghai 200031, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fengjuan","family":"Gao","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Eye & ENT Hospital, Fudan University, Shanghai 200031, China"},{"name":"Shanghai Key Laboratory of Visual Impairment and Restoration, Fudan University, Shanghai 200031, China"},{"name":"NHC Key Laboratory of Myopia, Fudan University, Shanghai 200031, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Min","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Eye & ENT Hospital, Fudan University, Shanghai 200031, China"},{"name":"Shanghai Key Laboratory of Visual Impairment and Restoration, Fudan University, Shanghai 200031, China"},{"name":"NHC Key Laboratory of Myopia, Fudan University, Shanghai 200031, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wenyi","family":"Tang","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Eye & ENT Hospital, Fudan University, Shanghai 200031, China"},{"name":"Shanghai Key Laboratory of Visual Impairment and Restoration, Fudan University, Shanghai 200031, China"},{"name":"NHC Key Laboratory of Myopia, Fudan University, Shanghai 200031, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wei","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Eye & ENT Hospital, Fudan University, Shanghai 200031, China"},{"name":"Shanghai Key Laboratory of Visual Impairment and Restoration, Fudan University, Shanghai 200031, China"},{"name":"NHC Key Laboratory of Myopia, Fudan University, Shanghai 200031, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Keyan","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Eye & ENT Hospital, Fudan University, Shanghai 200031, China"},{"name":"Shanghai Key Laboratory of Visual Impairment and Restoration, Fudan University, Shanghai 200031, China"},{"name":"NHC Key Laboratory of Myopia, Fudan University, Shanghai 200031, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jihong","family":"Wu","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Eye & ENT Hospital, Fudan University, Shanghai 200031, China"},{"name":"Shanghai Key Laboratory of Visual Impairment and Restoration, Fudan University, Shanghai 200031, China"},{"name":"NHC Key Laboratory of Myopia, Fudan University, Shanghai 200031, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rui","family":"Jiang","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Eye & ENT Hospital, Fudan University, Shanghai 200031, China"},{"name":"Shanghai Key Laboratory of Visual Impairment and Restoration, Fudan University, Shanghai 200031, China"},{"name":"NHC Key Laboratory of Myopia, Fudan University, Shanghai 200031, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gezhi","family":"Xu","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Eye & ENT Hospital, Fudan University, Shanghai 200031, China"},{"name":"Shanghai Key Laboratory of Visual Impairment and Restoration, Fudan University, Shanghai 200031, China"},{"name":"NHC Key Laboratory of Myopia, Fudan University, Shanghai 200031, China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2022,5,16]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"408","DOI":"10.1093\/brain\/75.3.408","article-title":"A peculiar form of peripheral neuropathy-familiar atypical generalized amyloidosis with special involvement of the peripheral nerves","volume":"75","author":"Andrade","year":"1952","journal-title":"Brain"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"22","DOI":"10.3109\/13506129.2012.665400","article-title":"Genotype\u2013phenotype correlation in FAP","volume":"191","author":"Zeldenrust","year":"2012","journal-title":"Amyloid"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"1086","DOI":"10.1016\/S1474-4422(11)70246-0","article-title":"Familial amyloid polyneuropathy","volume":"10","author":"Said","year":"2011","journal-title":"Lancet 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