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Two of them underwent phototherapeutic keratectomy (PTK). Genetic analysis included both next\u2010generation and Sanger sequencing. Specimens from the manual keratectomy of one patient were available for ophthalmic pathologic examination, including immunohistochemistry.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The common splice\u2010site altering synonymous variant c.3156C\u2009&gt;\u2009T, p.(Gly1052=) in\u2009<jats:italic>COL17A1<\/jats:italic> was confirmed in 15 individuals with ERED from the four families. Subepithelial corneal scarring grades varied and increased with age, leading to decreased best\u2010corrected visual acuity. PTK improved vision in 58\u2010 and 67\u2010year\u2010old individuals without reactivating the disease. The keratectomy specimens showed an uneven epithelium and a spectrum of basement membrane abnormalities, including breaks, fragmentation, multiplication and entrapment within the subepithelial scar, reflecting recurrent erosions. The stromal cells consisted of varying proportions of bland and activated fibroblasts and myofibroblasts, reflecting different ages of scars. The family with the largest number of known affected generations originated from Southern Sweden.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>The phenotype in the Finnish ERED families is consistent with earlier reports of the c.3156C\u2009&gt;\u2009T variant, although the severity has varied between reports. The phenotype may be modulated by other genes. This study suggests a likely founder effect of the variant in both Finnish and Swedish populations due to their shared population histories. If vision is compromised, PTK can be considered especially in older patients.<\/jats:p><\/jats:sec>","DOI":"10.1111\/aos.15716","type":"journal-article","created":{"date-parts":[[2023,6,8]],"date-time":"2023-06-08T14:13:55Z","timestamp":1686233635000},"page":"296-305","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Epithelial recurrent erosion dystrophy (<scp>ERED<\/scp>) from the splice site altering <i>COL17A1<\/i> variant c.<scp>3156C&gt;T<\/scp> in families of <scp>Finnish\u2010Swedish<\/scp> ancestry"],"prefix":"10.1111","volume":"102","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9569-9146","authenticated-orcid":false,"given":"Joni A.","family":"Turunen","sequence":"first","affiliation":[{"name":"Ophthalmic Genetics Service, Department of Ophthalmology University of Helsinki and Helsinki University Hospital  Helsinki Finland"},{"name":"Eye Genetics Group, Folkh\u00e4lsan\u2009Research\u2009Center  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