Orphanet: Autosomal dominant keratitis
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Autosomal dominant keratitis

Disease definition

Hereditary keratitis is characterised by opacification and vascularisation of the cornea, often associated with macula hypoplasia.

ORPHA:2334

Classification level: Disorder
  • Synonym(s):
    • Hereditary keratitis
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant 
  • Age of onset: Childhood
  • ICD-10: H16.8
  • OMIM: 148190
  • UMLS: C1835698
  • MeSH: C537022
  • GARD: 3089
  • MedDRA: -

Summary

Epidemiology

The prevalence is unknown.

Clinical description

The presence of macular hypoplasia and iris anomalies in some familial cases suggest that in these cases the disease may be a form of aniridia.

Etiology

The syndrome is transmitted in an autosomal dominant manner and is associated with mutations in the PAX6 gene.

- Last update: March 2006

  A summary on this disease is available in Deutsch (2006) Español (2006) Français (2006) Italiano (2006) Nederlands (2006)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

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