Sökning: "aniridia-related keratopathy"

Hittade 1 avhandling innehållade orden aniridia-related keratopathy.

  1. 1. Aniridia-related keratopathy : structural changes, signaling pathways and clinical aspects

    Författare :André Vicente; Fatima Pedrosa Domellöf; Berit Byström; Luis Abegão Pinto; Jing-Xia Liu; Anders Ivarsen; Umeå universitet; []
    Nyckelord :MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; aniridia; aniridia-related keratopathy; PAX6; keratoplasty; fetal cornea; Notch1; Wnt; sonic hedgehog; mTOR; keratocyte; oftalmiatrik; ophthalmology;

    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