02332-A: Identification of Mutations for Primary Lens Luxation in Multiple Dog Breeds
Grant Status: Open
Primary lens luxation (PLL) is a painful inherited disease that affects many breeds of dog. A mutation in the gene ADAMTS17 has been identified that causes PLL in at least 20 breeds and DNA tests are available for these breeds. Different mutations in ADAMTS17 are also known to cause a different disease, primary open angle glaucoma (POAG), in a small number of additional breeds and POAG in two more breeds is known to be caused by mutations in the closely related gene ADAMTS10. POAG is characterized by increased pressure within the eye that is due to abnormalities deep within the part of the eye known as the ciliary cleft that disrupt the normal drainage of fluid within the eye. Although PLL and POAG are different diseases, they are both caused by abnormalities in the part of the eye known as the ciliary body or in nearby tissues. There are currently several breeds of dog that are affected by PLL but for which mutations are currently unknown. The investigators will investigate both ADAMTS10 and ADAMTS17 for novel mutations that explain PLL in five breeds of dog. The DNA sequence data can also be used to facilitate future studies of other inherited disorders in dogs, beyond the scope of this study.
None at this time.
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