Corneal dystrophy

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

The patch of corneal dystrophy (FCD) is a very rare congenital form of dystrophy with numerous non- progressive patchy opacities in the stroma of the cornea without loss of visual acuity .

Corneal dystrophy in the slit lamp (left) and with the confocal microscope (right) (Courtesy Dr. Charles N. McGhee)

Synonyms are: François-Neetens spotty corneal dystrophy; English Corneal Dystrophy, spot; Corneal Dystrophy, Francois-Neetens Speckled or Flecked; François dystrophy II; François-Neetens mouchetée fleck corneal dystrophy

The name refers to the first author or the authors of the first description from 1957 by the Belgian ophthalmologists Émile Jules Marie Joseph François (1907-1984) and Adolfe Neetens.

distribution

The frequency is given as less than 1 in 1,000,000, inheritance is autosomal dominant .

root cause

The disease are mutations in PIKFYVE - gene on chromosome 2 locus q34 based.

Clinical manifestations

Clinical criteria are:

  • The onset of illness is possible at any time
  • Normal corneal sensitivity, normal visual acuity
  • slight photophobia possible
  • mostly very small, symmetrical opacities in the center and periphery with a clear margin, imposing like spots, especially in the middle third of the cornea

Differential diagnosis

Other forms of corneal dystrophy are to be distinguished,

literature

  • JA Gee, RF Frausto, DW Chung, C. Tangmonkongvoragul, DJ Le, C. Wang, J. Han, AJ Aldave: Identification of novel PIKFYVE gene mutations associated with Fleck corneal dystrophy. In: Molecular vision. Vol. 21, 2015, pp. 1093-1100, PMID 26396486 , PMC 4575904 (free full text).
  • GK Klintworth: Corneal dystrophies. In: Orphanet Journal of Rare Diseases. Vol. 4, February 2009, p. 7, doi: 10.1186 / 1750-1172-4-7 , PMID 19236704 , PMC 2695576 (free full text) (review)
  • S. Li, L. Tiab, X. Jiao, FL Munier, L. Zografos, BE Frueh, Y. Sergeev, J. Smith, B. Rubin, MA Meallet, RK Forster, JF Hejtmancik, DF Schorderet: Mutations in PIP5K3 are associated with François-Neetens mouchetée fleck corneal dystrophy. In: American Journal of Human Genetics . Vol. 77, No. 1, July 2005, pp. 54-63, doi: 10.1086 / 431346 , PMID 15902656 , PMC 1226194 (free full text).

Individual evidence

  1. ↑ a b c Corneal dystrophy. In: Orphanet (Rare Disease Database).
  2. ↑ IC3D classification
  3. ↑ Who named it
  4. ↑ J. François, A. Neetens: Nouvelle dystrophy heredofamiliale you parenchyma corneen (heredo-dystrophy mouchetée). In: Bulletin de la Societe belge d'ophtalmologie. Vol. 114, 1957, pp. 641-646, PMID 13446668 .
  5. ↑ Corneal Dystrophy, Fleck.  In: Online Mendelian Inheritance in Man . (English)