02340: Clinical and Genetic Background of Progressive Retinal Atrophy in Miniature Schnauzers
Grant Status: Closed
Abstract
Dogs may be affected with hereditary eye disorders, which cause severe vision impairment, and sometimes progress to complete blindness. One hereditary condition is progressive retinal atrophy (PRA), in which the light‐sensing receptors in the retina are lost, leading to complete blindness. Currently there are no treatment options for this disease. The development of genetic testing would be an important breakthrough for veterinary medicine. The identification of a causative gene would also enable a study of the molecular background of the disease for improved treatment plans. The investigators have established a large pedigree and clinically‐investigated sample cohort in Miniature Schnauzers with PRA to identify its genetic cause, and have already identified the chromosomal region suspected to harbors the causative gene. Through this study, they researchers hope to identify a PRA gene and mutation, leading to a genetic test for the eradication of this disorder from the Miniature Schnauzer breed.
Publication(s)
Kaukonen, M., Quintero, I., Mukarram, A., Hytönen, M. K., Holopainen, S., Wickstrom, K., Kyostila, K., Arumilli, M., Jalomaki, S., Daub, C., Kere, J., Lohi, H., & The DoGA Consortium. (2020). A putative silencer variant in a spontaneous canine model of retinitis pigmentosa. PLOS Genetics, 16(3), e1008659. doi.org/10.1371/journal.pgen.1008659
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