Recurrent corneal erosions dystrophy (ERED) in a Finnish family is caused by a COL17A1 splice‐altering mutation

Abstract

PurposeThe epithelial recurrent erosion dystrophy (ERED) is a rare autosomal dominant corneal disease. Recently, mutations in collagen type XVII, alpha 1 (COL17A1) gene have been identified as the cause of ERED. Here we report a Finnish family with recurrent erosions with dominant inheritance pattern. We performed COL17A1 candidate gene sequencing.MethodsFive affected and five unaffected family members underwent standard ophthalmological examination, corneal topography, anterior segment optical coherence tomography and in vivo confocal microscopy. Next‐generation exome sequencing of peripheral blood was made in two of the affected individuals to identify mutations in the large COL17A1 gene. Sanger sequencing was used to verify the presence of the identified variant in the other family members.ResultsAffected patients reported recurrent corneal erosions beginning at the age of 4‐6 years. The frequency of erosions decreased in adult age. Corneal scarring and anterior stromal opacities were observed. The visual acuity slowly deteriorated. Exome‐sequencing revealed a synonymous splice‐altering variant c.3156C>T in COL17A1 in two affected patients. Sanger sequencing confirmed the presence of the same variant in four affected family members and its absence from two unaffected ones. The variant was not present in the Sequencing Initiative Suomi (SISu) database consisting of 10,490 Finns.ConclusionsThe variant c.3156C>T in COL17A1 is reported recently in five English, American, New Zealand, and Tasmanian families with ERED. Our finding of the same synonymous variant in yet another population strengthens the evidence this variant is a frequent cause of ERED.