Inherited retinal dystrophy is a common cause of blindness, with as many as two million people suffering from the disorder worldwide, and there is no effective treatment.
Now a study at the University of Helsinki in Finland has uncovered a mutation in the IFT122 gene in blind dogs, The Bark reports. The gene defect results in the progressive destruction of photoreceptor cells and retinal dystrophy. IFT122 is a new candidate also for retinal dystrophy in humans. A gene test has been developed based on the finding.
Developing therapies to treat this form of blindness is possible only when the genetic cause of the disease is known.
“Retinal dystrophy has been described in over 100 dog breeds, with related investigations helping to identify new genes associated and pathogenic mechanisms with blindness across different breeds. IFT122 is a good example, offering a potential explanation for unsolved human cases as well,” says Professor Hannes Lohi, a researcher at the university.
The new study is part of a broader research project on the genetic background of inherited diseases by Professor Lohi’s research group.
“There are a lot more gene findings associated with eye diseases on the way in canine research. We are only just getting started.”