Epithelial recurrent erosion dystrophy (ERED) from the splice site altering COL17A1 variant c.3156C>T in families of Finnish-Swedish ancestry.
Joni Antero TurunenIlpo S TuiskuPauliina E RepoSanna MörtenhumerSabita KawanReetta-Stiina JärvinenAnna KorsbäckAnnamari T ImmonenTero Tapani KiveläPublished in: Acta ophthalmologica (2023)
The phenotype in the Finnish ERED families is consistent with earlier reports of the c.3156C > T 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.