Dr Roly Megaw
Clinical lecturer / honorary consultant ophthalmologist at NHS Lothian
MRC Human Genetics Unit
University of Edinburgh
My clinical and research interests lie in the inherited retinal dystrophies, a group of monogenetic diseases that cause irreversible blindess. Mutations in over 100 genes cause death of the light-sensing photoreceptors in the retina, resulting in visual loss.
The photoreceptor contains the most elaborate primary cilia in our body, comprising an expanse of folded membrane discs packed with the photosensitive pigment rhodopsin. These discs, constituting the photoreceptor’s outer segment, continually turn over in a dynamic, poorly understood process required for vision.
Mutations in genes that underpin certain retinal dystrophies lead to abnormalities in cilia trafficking and disc formation. My research is aimed at defining the roles of these genes in photoreceptor health and diisease.