Hilde Røgeberg Pedersen at the University of South-Eastern Norway, Faculty of Health and Social Sciences, will be defending her thesis «The Retina in Congenital Aniridia – Structural, Functional and Genetic Variability» for the degree of philosophiae doctor (ph.d.).
To prevent the spread of coronavirus, the event will be conducted at Zoom on May 12.
Digital trial lecture starts at 13.00 PM and public defens at 14.30 PM.
In her Ph.D, Hilde R. Pedersen studied variation in genotypes, variation in retinal structure by live imaging of retinal photoreceptors, and its implications on visual function in persons with aniridia.
Aniridia is a rare genetic condition, usually due to an abnormality in a gene called PAX6, causing underdevelopment of several eye structures, including the retina. This can lead to severely impaired vision. But while some persons with aniridia are visually impaired or blind, others may have near normal sight.
The results in the thesis show that persons with aniridia have fewer photoreceptors than normal and that there are large individual differences in how the retina has developed. This has major impact on the persons’ ability to see details and colours. Furthermore, the results indicate that the severity of retinal underdevelopment is associated with the position and extent of the gene alteration in or flanking the PAX6 gene.
This knowledge can form the basis for earlier and better personalized follow-up, treatment, advice and visual rehabilitation, and thus have a direct impact in the clinical management of persons with aniridia.