A PhD project by Anne Caroline Wiik has discovered the genetic cause of day blindness or "cone-rod dystrophy” in the wire-haired dachshund. The disease was discovered in two litter mates in 1999 and has since been studied in both clinical and genetic trials in offspring of these.
In her thesis, Anne Caroline Wiik concentrated on finding the genetic mutation that causes this disease. Day blindness is a recessive, heritable disease in which both parents need to be carriers in order for the disease to develop.
Inherited photoreceptor diseases, or diseases in the sensory cells of the retina (rods and cones), occur naturally in both animals and man. They comprise the most common form of inherited retinal disease in people, with an occurrence of approximately 1 in 4,000.
The project began with a candidate gene study, in which genes known to cause similar diseases in people were investigated to see if they had any connection to the canine disease. Ten genes were studied, without a connection being found between the genes and eye disease.
A new method for finding genetic mutations
Wiik was then among the first researchers to be given an opportunity to try a new method of finding genes causing the disease in dogs. By comparing....read more