ESCRS - PP06.13 - Families With Epithelial Recurrent Erosion Dystrophy From Mutations In Col17a1 Gene In Spain.

Families With Epithelial Recurrent Erosion Dystrophy From Mutations In Col17a1 Gene In Spain.

Published 2025 - 43rd Congress of the ESCRS

Reference: PP06.13 | Type: Poster | DOI: 10.82333/yf5f-dd53

Authors: June Artaechevarria Artaechevarria Artieda* 1 , Lourdes Salgueiro Tielas 1 , Fiona Blanco-Kelly 2 , Luis Garcia Onrubia 1 , Jose Javier San Román Llorens 3 , Natalia Lorenzana Blanco 1 , Nicolas Alejandre Alba 1 , Blanca Garcia Sandoval 3 , Carmen Ayuso 2 , Almudena Avila Fernandez 2 , Ignacio Jimenez-Alfaro Morote 3

1Ophthalmology,University Hospital Fundación Jiménez Diaz,Madrid,Spain, 2Genetics & Genomics,Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital,Madrid,Spain;Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III,Madrid,Spain, 3Ophthalmology,University Hospital Fundación Jiménez Diaz,Madrid,Spain;Ophthalmology,Hospital Ruber Juan Bravo,Madrid,Spain

Purpose

To report the clinical and genotype findings of the first families in southern Europe with epithelial recurrent erosion dystrophy (ERED) related to mutations in COL17A1 gene.

Setting

University Hospital Fundacion Jimenez Diaz, Madrid, Spain.

Methods

Patients diagnosed with epithelial recurrent erosion dystrophy and who underwent genetic study were included. Demographic data was collected. Clinical examination included best corrected visual acuity (BCVA) in decimal scale, biomicroscopy, anterior segment optical coherence tomography (AS-OCT) and iconography. Genetic study included sequencing of the coding region and flanking intronic regions through next-generation sequencing (NGS) of a panel of 24 genes related to corneal dystrophies, including COL17A1.

Results

9 patients from 5 families were included, with a mean age of 58.2 years (range 31-81). There were 4 males and 5 females, and all were Caucasians. 8 patients presented episodes of bilateral recurrent corneal erosions, and only 1 was asymptomatic. Symptoms started at the age of 7.1 years (range 5-17) and ceased at the age of 47.7 years (range 39-60). Mean BCVA was 0.82 (range 0.6-1.0) on the right eye and 0.74 in the left eye (range 0.3-1.0). All symptomatic patients presented diffuse subepithelial opacities, and 1 of them presented peripheral subepithelial nodules. The AS-OCT showed subepithelial hyperreflectivity in the areas of corneal opacities. All patients presented the synonymous mutation c.3156C>T (p.Gly1052Gly) in COL17A1 gene.

Conclusions

The synonymous mutation c.3156C>T (p.Gly1052Gly) in the COL17A1 gene has recently been identified as a causative factor for ERED. To date, this mutation has been reported in only 10 families worldwide, with four of these families located in Finland. This study represents the first report of families with ERED exhibiting this specific genotype in Southern Europe. Genetic analysis plays a crucial role in the diagnosis of corneal dystrophies, particularly ERED, as it is the only definitive method for confirming the phenotypic diagnosis and providing genetic counselling.