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Epithelial recurrent erosion dystrophy
Epithelial recurrent erosion dystrophy (ERED) is a rare form of superficial corneal dystrophy (see this term) characterized by recurrent episodes of epithelial erosions from childhood in the absence of associated diseases, with occasional impairment of vision.
ORPHA:293381Classification level: Disorder
- Dystrophia Helsinglandica
- Dystrophia Smolandiensis
- Recurrent hereditary corneal erosions
- Prevalence: Unknown
- Inheritance: Autosomal dominant
- Age of onset: Childhood
- ICD-10: H18.5
- OMIM: 122400
- UMLS: C1852551
- MeSH: -
- GARD: -
- MedDRA: -
Prevalence of this form of corneal dystrophy is unknown, but numerous cases have been reported to date.
The erosions begin spontaneously or are precipitated by minor trauma, dust or smoke. The condition may become apparent by 6 months of age, but as a rule it only starts at 4 to 6 years of age. Most patients have attacks of redness, photophobia, epiphora, and ocular pain. Some experience a burning sensation and report sensitive eyes for years. Exposure to sunlight or draught, dust and smoke and lack of sleep can precipitate attacks. The intensity and frequency of the recurrent epithelial erosions tend to diminish over time, and usually cease by the end of the fourth decade. Vision is sometimes impaired.
The etiology has not been completely elucidated. The gene related to ERED remains to be mapped to a specific chromosomal locus.
On slit-lamp examination, the erosions may be accompanied by a subepithelial haze or blebs, and subepithelial opacities, apparently due to fibrosis, or keloid-like nodules may develop. When present, subepithelial opacities continue to enlarge. Specific morphologic abnormalities have not been identified in ERED.
Suspected cases of ERED should be differentiated from other conditions that are accompanied by recurrent epithelial erosions, particularly when erosions are the initial presenting manifestation, such as epithelial basement membrane dystrophy and other superficial or stromal corneal dystrophies (see these terms).
An autosomal dominant pattern of inheritance has been reported.
Management and treatment
ERED can be treated medically with the aim of healing the epithelial defect and protecting the loosely adherent epithelium. A topical antibiotic, cycloplegic and pressure patch are valuable. A lubricating ointment is useful at night. Hypertonic saline and bandage contact lens therapy may also be beneficial.