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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 2334
Hereditary keratitis is characterised by opacification and vascularisation of the cornea, often associated with macula hypoplasia.
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.
Visit the Orphanet disease page for more resources.
Source: GARD Last updated on 05-01-20
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