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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 Kivelä
Published 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.
Keyphrases
  • adverse drug
  • early onset
  • genome wide
  • emergency department
  • genome wide association study
  • genome wide identification