Search for a rare disease
Other search option(s)
Autosomal dominant keratitis
Hereditary keratitis is characterised by opacification and vascularisation of the cornea, often associated with macula hypoplasia.
ORPHA:2334Classification level: Disorder
The prevalence is unknown.
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.
The syndrome is transmitted in an autosomal dominant manner and is associated with mutations in the PAX6 gene.
A summary on this disease is available in Deutsch (2006) Español (2006) Français (2006) Italiano (2006) Nederlands (2006)
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
Specialised Social Services
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.