{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T20:39:04Z","timestamp":1777581544700,"version":"3.51.4"},"reference-count":14,"publisher":"SAGE Publications","issue":"4","license":[{"start":{"date-parts":[[2021,3,1]],"date-time":"2021-03-01T00:00:00Z","timestamp":1614556800000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100011905","name":"evald ja hilda nissin s\u00e4\u00e4ti\u00f6","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100011905","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100013510","name":"silm\u00e4- ja kudospankkis\u00e4\u00e4ti\u00f6","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100013510","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["European Journal of Ophthalmology"],"published-print":{"date-parts":[[2022,7]]},"abstract":"\n Introduction:<\/jats:title>\n We describe the phenotype of a variant lattice corneal dystrophy (LCD) potentially caused by a novel variant c.1772C>T p.(Ser591Phe) in exon 13 of the transforming growth factor beta-induced (TGFBI) gene.<\/jats:p>\n <\/jats:sec>\n \n Case report:<\/jats:title>\n The proband, a 71-year-old woman referred because of bilateral LCD, first seen at the age of 65\u2009years, with recent progressive symptoms, underwent a clinical ophthalmological examination, anterior segment optical coherence tomography and confocal microscopy. Additionally, three siblings and three children were examined. The identified TGFBI variant was screened in six family members using Sanger sequencing. A corneal dystrophy gene screen was performed for the proband. Translucent subepithelial irregularities and central to midperipheral stubby branching corneal stromal lattice lines, asymmetric between the right and the left eye, were visible and resulted in mild deterioration of vision in one eye. Genetic testing revealed a novel variant c.1772C>T in TGFBI, leading to the amino acid change p.(Ser591Phe). One daughter carried the same variant but had only thick stromal nerve fibres at the age of 49\u2009years. The other family members neither had corneal abnormalities nor carried the variant. No keratoplasty is yet planned for the proband.<\/jats:p>\n <\/jats:sec>\n \n Conclusions:<\/jats:title>\n We classify the novel variant in TGFBI as possibly pathogenic, potentially causing the late-onset, asymmetric variant LCD. Our findings add to the growing number of TGFBI variants associated with a spectrum of phenotypes of variant LCD.<\/jats:p>\n <\/jats:sec>","DOI":"10.1177\/1120672121997305","type":"journal-article","created":{"date-parts":[[2021,3,1]],"date-time":"2021-03-01T07:07:41Z","timestamp":1614582461000},"page":"NP61-NP66","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":3,"title":["A novel missense\n TGFBI<\/i>\n variant p.(Ser591Phe) in a Finnish family with variant lattice corneal dystrophy"],"prefix":"10.1177","volume":"32","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1097-9596","authenticated-orcid":false,"given":"Aino Maaria","family":"Jaakkola","sequence":"first","affiliation":[{"name":"Department of Ophthalmology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Petri J","family":"J\u00e4rventausta","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Reetta-Stiina","family":"J\u00e4rvinen","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland"},{"name":"Folkh\u00e4lsan Research Center, Biomedicum Helsinki, Helsinki, Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pauliina","family":"Repo","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland"},{"name":"Folkh\u00e4lsan Research Center, Biomedicum Helsinki, Helsinki, Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tero T","family":"Kivel\u00e4","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joni A","family":"Turunen","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland"},{"name":"Folkh\u00e4lsan Research Center, Biomedicum Helsinki, Helsinki, Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2021,3,1]]},"reference":[{"key":"bibr1-1120672121997305","doi-asserted-by":"publisher","DOI":"10.1097\/ICO.0000000000000307"},{"key":"bibr2-1120672121997305","first-page":"371","volume":"50","author":"Klintworth GK.","year":"1967","journal-title":"Am J 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