Sökning: "aniridia"
Hittade 2 avhandlingar innehållade ordet aniridia.
1. Aniridia-related keratopathy : structural changes, signaling pathways and clinical aspects
Sammanfattning : Aniridia is a congenital autosomal dominant, bilateral, panocular condition, caused by haploinsufficiency of the Pax6 transcription factor. Aniridia-related keratopathy (ARK) significantly affects vision and quality of life in these patients. LÄS MER
2. On Aniridia in Sweden and Norway
Sammanfattning : Introduction Aniridia (iris more or less missing), is a congenital, dominant, inherited, serious and sight-threatening disease, most often appearing as an isolated eye disorder. It is caused by mutations in the PAX6 gene, the master gene of the development of the eye. Typically, Aniridia causes severe visual impairment. LÄS MER