11Jun 2023
Epithelial recurrent erosion dystrophy (ERED) from the splice site altering COL17A1 variant c.3156C>T in families of Finnish‐Swedish ancestry

Epithelial recurrent erosion dystrophy (ERED) from the splice site altering COL17A1 variant c.3156C>T in families of Finnish‐Swedish ancestry

This study describes four Finnish families affected by epithelial recurrent erosion dystrophy (ERED) caused by a specific genetic variant in the COL17A1 gene. Clinical examinations and genetic analyses were performed on the affected and unaffected individuals. The identified variant was confirmed in 15 individuals with ERED, leading to various degrees of corneal scarring and decreased visual acuity over time. Two patients underwent a surgical procedure called phototherapeutic keratectomy (PTK), which improved their vision without causing a recurrence of the disease. Pathological examination of corneal specimens revealed characteristic abnormalities in the epithelium and basement membrane, reflecting the recurrent erosions. The study suggests a likely founder effect of the genetic variant in Finnish and Swedish populations. PTK can be considered for vision improvement in older patients with compromised vision due to ERED.

  • #ophthalmology

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