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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.