Search for dissertations about: "aniridia"

Found 2 swedish dissertations containing the word aniridia.

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

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

    Abstract : 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. READ MORE

  4. 2. On Aniridia in Sweden and Norway

    Author : Ulla Edén; Lund Oftalmologi; []
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Gillespie syndrome; Aniridia; PAX6 gene;

    Abstract : 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. READ MORE