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Epithelial recurrent erosion dystrophy: for professionals


Clinical phenotype

Incidence
  • Unknown
Corneal Features
  • Frequent recurrent corneal erosions over the first 3-4 decades of life
  • Normal corneal epithelial appearance in between flare-ups
  • Progressive development of sub-epithelial corneal opacity thereafter with reduction in severity and frequency of erosions
Symptoms
  • Painful erosion attacks that can last for days up to the 3rd or 4th decade
  • Gradual reduction in frequency and severity of flare-ups over time

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Genetics

Gene (OMIM no.) and associated function
  • COL17A1 (#113811)
  • Encodes collagen 17a1, a structural component of hemidesmosomes[1,2]
Inheritance pattern

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Diagnosis

Epithelial recurrent erosion dystrophy can be diagnosed clinically. Genetic testing can be undertaken to confirm the diagnosis, facilitate genetic counselling, provide accurate advice on prognosis and future family planning, and aid in clinical trial participation.

This can be achieved through a variety of next generation sequencing (NGS) methods:

  • Targeted gene panels (anterior segment dysgenesis)
  • Whole exome sequencing
  • Whole genome sequencing

Related links

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Management

  • Topical lubricants and/or extended wear therapeutic contact lenses are primary therapeutic options for patients; topical antibiotics can be added during acute flare-ups to prevent secondary infections
  • Superficial mechanical epithelial debridement or excimer laser superficial phototherapeutic keratectomy (PTK) may help with more severe recurrent erosions but the abnormal epithelial phenotype tends to recur rapidly following removal[3]
  • Corneal thickness must be measured prior to excimer laser PTK for superficial opacities as it may thin the cornea
  • The number of PTK attempts are limited due to progressive corneal thinning with repeated procedures

Related links

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Further information and support

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References

  1.  Jonsson F, Byström B, Davidson AE, et al. Mutations in collagen, type XVII, alpha 1 (COL17A1) cause epithelial recurrent erosion dystrophy (ERED). Hum Mutat. Apr 2015;36(4):463-73. doi:10.1002/humu.22764
  2.  Oliver VF, van Bysterveldt KA, Cadzow M, et al. A COL17A1 Splice-Altering Mutation Is Prevalent in Inherited Recurrent Corneal Erosions. Ophthalmology. Apr 2016;123(4):709-22. doi:10.1016/j.ophtha.2015.12.008
  3.  Hieda O, Kawasaki S, Yamamura K, Nakatsukasa M, Kinoshita S, Sotozono C. Clinical outcomes and time to recurrence of phototherapeutic keratectomy in Japan. Medicine. 2019;98(27):e16216-e16216. doi:10.1097/MD.0000000000016216

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Updated on December 1, 2020
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