Autosomal Dominant Keratitis

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

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.