Basement membrane epithelial dystrophy

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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

  1. ^ Rare Diseases
  2. ↑ a b Eyewiki
  3. ^ 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).
  4. ↑ Corneal dystrophy, epithelial basement membrane.  In: Online Mendelian Inheritance in Man . (English)
  5. ↑ IC3D classification
  6. ↑ 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 .

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