Hunden som modell för ärftlig retinopati hos människa

Sammanfattning: This literature review aims to evaluate the dog as a model organism for research concerning retinopathy, as well as gene therapy as a potential treatment. At least 256 genes and 300 mutations associated with hereditary retinopathy in humans have been identified. In canines, 28 such genes have been identified. Retinopathy has been observed to exhibitautosomal recessive-, autosomal dominant-, x-bound- and mitochondrial inheritance pattern. Besides different forms of heredity, retinopathies can differ in severity, age of onset and speed of progression. Rats and mice have long histories as model organisms for research in hereditary retinopathy. However, they are unsuited to certain research due to anatomical differences between their eyes and the eyes of humans. Two genetic bottlenecks, among other reasons com- pound to make the canine an ideal model animal for this purpose. The eye of a canine has anatomical similarities with a human one. Gene therapy is a possible treatment for genetic diseases. Studies on gene therapy in canines have shown promising results. Phase I and II trials on humans have also been performed with promising results.