Epithelial recurrent erosive dystrophy

Classification according to ICD-10
H18.5	Hereditary corneal dystrophies
ICD-10 online (WHO version 2019)

The Epithelial recurrent Erosionsdystrophie (Ered) is a very rare congenital form of a superficial corneal dystrophy with incipient when childhood erosions of the corneal epithelium.

Synonyms are: Dystrophia Helsinglandica; Dystrophia smolandiensis; Corneal erosion, hereditary recurrent; Recurrent hereditary corneal abrasions, English Franceschetti corneal dystrophy

The first description comes from the year 1928 by the Swiss ophthalmologist Adolphe Franceschetti (1896–1968).

distribution

The frequency is unknown; the inheritance is autosomal dominant .

root cause

The disease are mutations in COL17A1 - gene on chromosome 10 locus q25.1 basis.

Clinical manifestations

Clinical criteria are:

• Onset of illness in childhood
• Erosion caused spontaneously or by minor trauma , dust, or smoke
• Redness, photophobia , tear overflow
• only rarely reduced visual acuity

Differential diagnosis

Other forms of corneal dystrophy are to be distinguished, in particular epithelial basement membrane dystrophy and other stroma corneal dystrophies .

literature

• BR Lin, DJ Le, Y. Chen, Q. Wang, DD Chung, RF Frausto, C. Croasdale, RW Yee, FJ Hejtmancik, AJ Aldave: Whole Exome Sequencing and Segregation Analysis Confirms That a Mutation in COL17A1 Is the Cause of Epithelial Recurrent Erosion Dystrophy in a Large Dominant Pedigree Previously Mapped to Chromosome 10q23-q24. In: PloS one. Vol. 11, No. 6, 2016, p. E0157418, doi: 10.1371 / journal.pone.0157418 , PMID 27309958 , PMC 4911149 (free full text).
• F. Jonsson, B. Byström, AE Davidson, LJ Backman, TG Kellgren, SJ Tuft, T. Koskela, P. Rydén, O. Sandgren, P. Danielson, AJ Hardcastle, I. Golovleva: Mutations in collagen, type XVII, alpha 1 (COL17A1) cause epithelial recurrent erosion dystrophy (ERED). In: Human mutation. Vol. 36, No. 4, April 2015, pp. 463-473, doi: 10.1002 / humu.22764 , PMID 25676728 .

Individual evidence

1. ↑ ^{a b c d} Recurrent epithelial erosion dystrophy. In: Orphanet (Rare Disease Database).
2. ↑ IC3D classification
3. ^ A. Franceschetti: Hereditaere recurrent erosion of the cornea. In: Zeitschrift für Augenheilkunde Vol. 66, 1928, pp. 309-316.
4. ↑ Epithelial recurrent erosion dystrophy.  In: Online Mendelian Inheritance in Man . (English)

This article is about a health issue. It is not used for self-diagnosis and does not replace a diagnosis by a doctor. Please note the information on health issues !