COL17A1 and amelogenesis imperfecta: Monoallelic COL17A1 variants can also cause dominantly inherited epithelial recurrent erosion dystrophy (ERED, OMIM 122400), a corneal disease with the potential for lifelong progression and vision loss (three variants reported).22 23 Furthermore, there are documented cases of monoallelic COL17A1 variants causing dominantly inherited amelogenesis imperfecta (AI) in the absence of other co-segregating features or any family history of JEB.