Lisch epithelial corneal dystrophy

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

The Lisch epithelial corneal dystrophy is a very rare congenital form of a superficial corneal dystrophy with spring-like turbidity and micro cysts in the epithelium of the cornea .

Synonym : Ribbon and vortex-shaped microcystic dystrophy of the corneal epithelium

The name refers to the first authors of the first description from 1983 by the German ophthalmologists Walter Lisch and Christina Lisch.

distribution

The frequency is given as less than 1 in 1,000,000, a German family over several generations as well as individual sporadic cases in Germany and the USA were described . The inheritance is X-linked - recessive .

root cause

The disease is caused by mutations on the X chromosome locus p22.3.

Clinical manifestations

Clinical criteria are:

  • Onset of illness in childhood
  • slowly progressing feather-like opacities in the corneal epithelium, arranged in a band or vortex
  • painless, visual acuity deterioration only in some patients and only then in old age

Differential diagnosis

Other forms of corneal dystrophy must be distinguished , in particular the clinically similar but autosomal dominant inherited Meesmann corneal dystrophy .

literature

  • C. Pole, A. Sise, M. Joag, A. Galor, JA Bermudez-Magner, S. Dubovy, CL Karp: High-Resolution Optical Coherence Tomography Findings of Lisch Epithelial Corneal Dystrophy. In: Cornea. Vol. 35, No. 3, March 2016, pp. 392-394, doi: 10.1097 / ICO.0000000000000722 , PMID 26764880 , PMC 4740230 (free full text).
  • W. Lisch, A. Büttner, F. Oeffner, I. Böddeker, H. Engel, C. Lisch, A. Ziegler, K. Grzeschik: Lisch corneal dystrophy is genetically distinct from Meesmann corneal dystrophy and maps to xp22.3. In: American journal of ophthalmology. Vol. 130, No. 4, October 2000, pp. 461-468, PMID 11024418 .
  • W. Lisch, KP Steuhl, C. Lisch, EG Weidle, CT Emmig, KL Cohen, HD Perry: A new, band-shaped and whorled microcystic dystrophy of the corneal epithelium. In: American journal of ophthalmology. Vol. 114, No. 1, July 1992, pp. 35-44, PMID 1621784 .

Individual evidence

  1. ↑ a b c Lisch epithelial corneal dystrophy. In: Orphanet (Rare Disease Database).
  2. ↑ W. Lisch, C. Lisch: The epithelial corneal basement membrane dystrophy. In: Clinical monthly sheets for ophthalmology. Vol. 183, No. 4, October 1983, pp. 251-255, doi: 10.1055 / s-2008-1054913 , PMID 6606071 .
  3. ↑ Corneal dystrophy, Lisch epithelial.  In: Online Mendelian Inheritance in Man . (English)