Basement membrane epithelial dystrophy
Classification according to ICD-10 | |
---|---|
H18.5 | Hereditary corneal dystrophies |
ICD-10 online (WHO version 2019) |
The Epithelial Basalmembrandystrophie (EBMD) is a very rare congenital form of dystrophy , in which the epithelium of the cornea due to a malfunction of the basement membrane loses its transparency.
Synonyms are: map dot fingerprint dystrophy; Cogan's microcystic epithelial dystrophy; Anterior basement membrane dystrophy; English Epithelial Basement Membrane Dystrophy; Cogan's Corneal Dystrophy; Microcystic Corneal Dystrophy
The first description comes from 1964 by the American ophthalmologist David G. Cogan and his colleagues.
distribution
The frequency is unknown; the inheritance is autosomal dominant .
root cause
The disease are - at least partially - mutations in TGFBI - gene on chromosome 5 locus q31.1 basis.
Degenerative changes or trauma are often the underlying cause.
Clinical manifestations
Clinical criteria are:
- Manifestation usually in adulthood
- Corneal opacity with spots, maps or fingerprint-like islands with thickened epithelium mostly in or around the center of the cornea
- Symptom-free or repeated painful erosions
- Visual disturbances from astigmatism possible
Differential diagnosis
The other forms of granular corneal dystrophy are to be distinguished , in particular Meesmann corneal dystrophy and Reis-Bücklers corneal dystrophy , but also epithelial recurrent erosion dystrophy (ERED)
literature
- WS Lee, CK Lam, EE Manche: Phototherapeutic keratectomy for epithelial basement membrane dystrophy. In: Clinical ophthalmology. Vol. 11, 2017, pp. 15-22, doi: 10.2147 / OPTH.S122870 , PMID 28031698 , PMC 5179214 (free full text).
- CJ Evans, AE Davidson, N. Carnt, KE Rojas López, N. Veli, CM Thaung, SJ Tuft, AJ Hardcastle: Genotype-Phenotype Correlation for TGFBI Corneal Dystrophies Identifies p. (G623D) as a Novel Cause of Epithelial Basement Membrane Dystrophy . In: Investigative ophthalmology & visual science. Vol. 57, No. 13, October 2016, pp. 5407-5414, doi: 10.1167 / iovs.16-19818 , PMID 27737463 .
- PR Laibson: Recurrent corneal erosions and epithelial basement membrane dystrophy. In: Eye & contact lens. Vol. 36, No. 5, September 2010, pp. 315-317, doi: 10.1097 / ICL.0b013e3181f18ff7 , PMID 20724847 (review).
Individual evidence
- ^ Rare Diseases
- ↑ a b Eyewiki
- ^ DG Cogan, DD Donaldson, T. Kuwabara, D. Marshall: Microcystic dystrophy of the corneal epithelium. In: Transactions of the American Ophthalmological Society. Vol. 62, 1964, pp. 213-225, PMID 14269893 , PMC 1310159 (free full text).
- ↑ Corneal dystrophy, epithelial basement membrane. In: Online Mendelian Inheritance in Man . (English)
- ↑ IC3D classification
- ↑ W. Lisch, Chr. Lisch: The epithelial cornea basement membrane dystrophy. In: Clinical monthly sheets for ophthalmology. Vol. 183, 1983, p. 251, doi: 10.1055 / s-2008-1054913 .
Web links
- Corneal dystrophy, microcystic. In: Orphanet (Rare Disease Database).