{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,21]],"date-time":"2026-04-21T10:15:49Z","timestamp":1776766549174,"version":"3.51.2"},"reference-count":11,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2022,1,6]],"date-time":"2022-01-06T00:00:00Z","timestamp":1641427200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2022,1,6]],"date-time":"2022-01-06T00:00:00Z","timestamp":1641427200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Int J Retin Vitr"],"published-print":{"date-parts":[[2022,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Background<\/jats:title>\n                <jats:p>Hereditary transthyretin amyloidosis (ATTR amyloidosis) is a rare condition where a mutation in the transthyretin gene leads to systemic deposition of amyloid. The manifestations and prognosis of ATTR amyloidosis depends on the specific ATTR mutation, with over 100 mutations reported in the literature. The manifestations of many rare forms of ATTR amyloidosis have not been well described, particularly the late-onset ophthalmic findings.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Case presentation<\/jats:title>\n                <jats:p>We present the case of a 43-year-old Caucasian male with a diagnosis of ATTRD18E amyloidosis confirmed by fat pad biopsy. He had diffuse systemic involvement, including cardiovascular, pulmonary, and gastrointestinal symptoms. He also had significant ocular involvement including vitreous opacities, retinal angiopathy, and conjunctival lymphangiectasia. These ocular findings modestly progressed at 2-year follow-up.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Discussion<\/jats:title>\n                <jats:p>The ATTRD18E mutation is a rare variant, with few described cases. To our knowledge, this is the first documented case of ATTRD18E amyloidosis with significant ocular involvement. These ocular findings may serve as a relevant biomarker for severe disease prognosis in ATTRD18E amyloidosis. With improving treatments addressing the systemic symptoms of ATTR amyloidosis, a better understanding of the late-onset ocular symptoms is becoming increasingly relevant.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s40942-021-00357-x","type":"journal-article","created":{"date-parts":[[2022,1,6]],"date-time":"2022-01-06T08:02:44Z","timestamp":1641456164000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Conjunctival lymphangiectasia and retinal angiopathy in hereditary transthyretin amyloidosis"],"prefix":"10.1186","volume":"8","author":[{"given":"Nikhil S.","family":"Patil","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Munir M.","family":"Iqbal","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4937-2687","authenticated-orcid":false,"given":"Lulu L. C. D.","family":"Bursztyn","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2022,1,6]]},"reference":[{"issue":"1","key":"357_CR1","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1186\/1750-1172-8-31","volume":"8","author":"Y Ando","year":"2013","unstructured":"Ando Y, Coelho T, Berk JL, Berk JL, Cruz MW, Ericzon BG, et al. Guideline of transthyretin-related hereditary amyloidosis for clinicians. Orphanet J Rare Dis. 2013;8(1):1\u201318.","journal-title":"Orphanet J Rare Dis"},{"issue":"2","key":"357_CR2","doi-asserted-by":"publisher","first-page":"117","DOI":"10.3109\/13506129.2015.1015678","volume":"22","author":"JM Beirao","year":"2015","unstructured":"Beirao JM, Malheiro J, Lemos C, Beir\u00e3o I, Costa P, Torres P. Ophthalmological manifestations in hereditary transthyretin (ATTR V30M) carriers: a review of 513 cases. Amyloid. 2015;22(2):117\u201322.","journal-title":"Amyloid"},{"issue":"3","key":"357_CR3","doi-asserted-by":"publisher","first-page":"160","DOI":"10.3109\/13506120308998998","volume":"10","author":"LH Connors","year":"2003","unstructured":"Connors LH, Lim A, Prokaeva T, Roskens VA, Costello CE. Tabulation of human transthyretin (TTR) variants, 2003. Amyloid. 2003;10(3):160\u201384.","journal-title":"Amyloid"},{"issue":"6","key":"357_CR4","doi-asserted-by":"publisher","first-page":"816","DOI":"10.1017\/cjn.2020.114","volume":"47","author":"D Namiranian","year":"2020","unstructured":"Namiranian D, Chalk C, Massie R. Poor yield of routine transthyretin screening in patients with idiopathic neuropathy. Can J Neurol Sci. 2020;47(6):816\u20139.","journal-title":"Can J Neurol Sci"},{"key":"357_CR5","first-page":"1","volume":"0","author":"T Damy","year":"2019","unstructured":"Damy T, Kristen A, Suhr O, Maurer MS, Plant\u00e9-Bordeneuve V, Yu CR, et al. Transthyretin cardiac amyloidosis in continental Western Europe: an insight through the transthyretin amyloidosis outcomes survey (THAOS). Eur Heart J. 2019;0:1\u201310.","journal-title":"Eur Heart J"},{"key":"357_CR6","doi-asserted-by":"publisher","first-page":"73","DOI":"10.1080\/13816810701351347","volume":"28","author":"JM Solano","year":"2007","unstructured":"Solano JM, Pulido JS, Salomao DR. A rare transthyretin mutation (Asp18Glu) associated with vitreous amyloid. Ophthalmic Genet. 2007;28:73\u20135.","journal-title":"Ophthalmic Genet"},{"key":"357_CR7","doi-asserted-by":"publisher","first-page":"1363","DOI":"10.1136\/bjophthalmol-2019-315381","volume":"104","author":"R Bunod","year":"2020","unstructured":"Bunod R, Adams D, Cauquil C, Francou B, Labeyrie C, Bourenane H, et al. Conjunctival lymphangiectasia as a biomarker of severe systemic disease in Ser77Tyr hereditary transthyretin amyloidosis. Br J Ophthalmol. 2020;104:1363\u20137.","journal-title":"Br J Ophthalmol"},{"key":"357_CR8","doi-asserted-by":"publisher","first-page":"66","DOI":"10.1080\/13506129.2020.1827381","volume":"28","author":"JH Marques","year":"2021","unstructured":"Marques JH, Coelho J, Malheiro J, Pessoa B, Beir\u00e3o JM. Subclinical retinal angiopathy associated with hereditary transthyretin amyloidosis\u2014assessed with optical coherence tomography angiography. Amyloid. 2021;28:66\u201371.","journal-title":"Amyloid"},{"key":"357_CR9","doi-asserted-by":"publisher","first-page":"156","DOI":"10.1016\/j.ajo.2017.09.001","volume":"183","author":"MM Reynolds","year":"2017","unstructured":"Reynolds MM, Veverka KK, Gertz MA, Dispenzieri A, Zeldenrust SR, Leung N, et al. Ocular manifestations of familial transthyretin amyloidosis. 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