Meesmann's corneal dystrophy

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

The Meesmann dystrophy (MECD) is a very rare congenital form of dystrophy with onset in childhood frühester.

Multiple patchy opacities in the corneal epithelium

Synonyms are: corneal dystrophy, epithelial juvenile, Meesmann type; Meesmann's corneal epithelial dystrophy, juvenile hereditary; Meesmann-Wilke syndrome; English Stocker-Holt dystrophy

The name refers to the author of the first description from 1938 by the Berlin ophthalmologist Alois Meesmann (1888–1969).

distribution

The frequency is unknown; the inheritance is autosomal dominant .

root cause

The disease are mutations in KRT3 - gene on chromosome 12 locus q13.13 or in the KRT12 gene on 17 chromosome q21.2 based encoding the two subunits of cytokeratin.

Clinical manifestations

Clinical criteria are:

  • Onset of the disease in the 1st to 2nd year of life
  • both eyes affected
  • central superficial, fine, diffuse punctures in the cornea
  • Corneal opacity with (only moderate) deterioration in vision , irregular astigmatism , increased sensitivity to glare
  • advancing in batches
  • normal corneal sensitivity

Differential diagnosis

Must be distinguished are the other forms of corneal dystrophy , in particular the clinically similar, but x-chromosonal inherited Lisch epithelial corneal dystrophy and Epithelial Basalmembrandystrophie .

history

Alois Meesmann published another report together with the Kiel ophthalmologist F. Wilke in 1939.

Frederick W. Stocker and L. Byerly Holt published a report in 1954. The disease they describe is viewed as a variant caused by an Arg19Leu amino acid change in cytokeratin 12.

literature

  • JL Chen, BR Lin, KM Gee, JA Gee, DW Chung, RF Frausto, SX Deng, AJ Aldave: Identification of presumed pathogenic KRT3 and KRT12 gene mutations associated with Meesmann corneal dystrophy. In: Molecular vision. Vol. 21, 2015, pp. 1378-1386, PMID 26788030 , PMC 4704769 (free full text).
  • MA Javadi, M. Rezaei-Kanavi, A. Javadi, N. Naghshgar: Meesmann corneal dystrophy; a clinico-pathologic, ultrastructural and confocal scan report. In: Journal of ophthalmic & vision research. Vol. 5, No. 2, April 2010, pp. 122-126, PMID 22737341 , PMC 3380688 (free full text).

Individual evidence

  1. ↑ a b Bernfried Leiber (founder): The clinical syndromes. Syndromes, sequences and symptom complexes . Ed .: G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger. 7., completely reworked. Edition. tape 2 : symptoms . Urban & Schwarzenberg, Munich et al. 1990, ISBN 3-541-01727-9 .
  2. ↑ a b c d e Meesmann corneal dystrophy. In: Orphanet (Rare Disease Database).
  3. ^ A. Meesmann: Clinical and anatomical investigations on a previously unknown, dominantly inherited dystrophia epithelialis corneae. In: Report of the German Ophthalmological Society , 1938, Vol. 52, pp. 154–158.
  4. ^ Meesmann corneal dystrophy.  In: Online Mendelian Inheritance in Man . (English)
  5. ↑ A. Meesmann, F. Wilke: Clinical and anatomical investigations on a previously unknown, dominantly inherited epithelial dystrophy of the cornea. In: Clinical monthly sheets for ophthalmology, 1939, Vol. 103, s. 361-391.
  6. ↑ FW Stocker, LB Holt: A rare form of hereditary epithelial dystrophy of the cornea: a genetic, clinical, and pathologic study. In: Transactions of the American Ophthalmological Society. Vol. 52, 1954-1955, pp. 133-144, PMID 13274420 , PMC 1312589 (free full text).

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