Autosomal dominant keratitis

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Classification according to ICD-10
H16.8 Other forms of keratitis
ICD-10 online (WHO version 2019)

The autosomal dominant keratitis (or hereditary keratitis) is a very rare congenital disease with the main characteristics turbidity of the cornea with vascularization, often along with a hypoplasia of the macula .

The first description comes from 1986 by the US ophthalmologist Jane D. Kivlin and colleagues.

distribution

The frequency is unknown; the inheritance is autosomal dominant .

root cause

The disease are mutations in PAX6 - gene on chromosome 11 locus p13 based encoding a gene of paired box gene family.

Clinical manifestations

Clinical criteria are:

  • Corneal opacity with vascular sprouting
  • often hypoplasia of the macula

Differential diagnosis

The different forms of corneal dystrophy are to be distinguished .

literature

  • F. Mirzayans, WG Pearce, IM MacDonald, MA Walter: Mutation of the PAX6 gene in patients with autosomal dominant keratitis. In: American Journal of Human Genetics . Vol. 57, No. 3, September 1995, pp. 539-548, PMID 7668281 , PMC 1801269 (free full text).
  • WG Pearce, BW Mielke, DT Hassard, HW Climenhaga, DB Climenhaga, EJ Hodges: Autosomal dominant keratitis: a possible aniridia variant. In: Canadian journal of ophthalmology. Journal canadien d'ophtalmologie. Vol. 30, No. 3, April 1995, pp. 131-137, PMID 7627897 .

Individual evidence

  1. ↑ a b c Keratitis, autosomal dominant. In: Orphanet (Rare Disease Database).
  2. ↑ JD Kivlin, DJ Apple, RJ Olson, R. Manthey: Dominantly inherited keratitis. In: Archives of ophthalmology. Vol. 104, No. 11, November 1986, pp. 1621-1623, PMID 3778274 .
  3. ↑ Keratitis, hereditary.  In: Online Mendelian Inheritance in Man . (English)

Web links