Epithelial Recurrent Erosion Dystrophy Secondary to COL17A1 c.3156C>T Mutation in a Non-white Family

Abstract

ERED associated with a COL17A1 mutation has been previously reported in only 6 families, all white. Identification of the c.3156C>T mutation, previously identified in 5 of these 6 families, in the Thai family we report indicates conservation of the genetic basis of ERED across different races and underscores the importance of ophthalmologists around the globe being familiar with ERED, which has only recently become a recognized corneal dystrophy.

IC3D Classification of Corneal Dystrophies—Edition 3

“…This evidence ideally includes examination of the cornea through a dilated pupil and examination of multiple generations of a family. [14][15][16] The Evolution of the EREDs Template After the discovery of ERED in 2015 from mutations in the COL17A1 gene, the logical question was whether FRCD, DS, and DH mapped to this same gene. Unfortunately, there are no publications regarding this information.…”

“…The age of onset and the depth of the deposits differ between variants, and some variants include opacities that have been described as polymorphic, polygonal, refractile chipped ice-like, gray to white, snowflake or geographic, rather than linear. 15 These LCD variants may initially be misdiagnosed as other corneal dystrophies like epithelial basement membrane dystrophy (EBMD), RBCD, TBCD, or GCD1 (Table 2) until genotyping reveals the true diagnosis.…”

“…This evidence ideally includes examination of the cornea through a dilated pupil and examination of multiple generations of a family. 14–16…”

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

“…The variant is synonymous, but it has been documented to result in abnormal splicing of COL17A1 mRNA with splicesite assay (Jonsson et al, 2015). The c.3156C > T variant has been reported to be pathogenic in families from five other countries (Lin et al, 2016;Oliver et al, 2016;Sullivan et al, 2003;Vahedi et al, 2018). It was found only once in the gnomAD database (frequency all: 1/125714, 0.00040%), in an East Asian individual (frequency among East Asian (Jonsson et al, 2015).…”

“…Four families from New Zealand, Australia and the United Kingdom were reported to carry the same variant (Oliver et al, 2016). The latest publication reported this common synonymous variant in a Thai family (Vahedi et al, 2018).…”