Genetic basis of Dental Skeletal Retinal Anomaly in Cane Corsos - is an inherited collagenopathy caused by a splice defect in the MIA3 gene (also known as TANGO1). This mutation leads to improper collagen synthesis and secretion, affecting multiple tissues. DSRA is inherited in an autosomal recessive manner: only dogs with two copies of the mutation (homozygous) will show symptoms. Heterozygotes (carriers) are unaffected but can pass the gene to offspring. The exact mutation is a small deletion at the MIA3 gene’s splice site, resulting in defective TANGO1 protein and subsequent broad tissue effects
Pathophysiology - Affected dogs develop abnormal teeth (dentinogenesis imperfecta), skeletal abnormalities, and progressive retinal degeneration. Dental features: Brittle, translucent, or opalescent discolored teeth with frequent fractures and delayed or defective dentin formation. Radiographs typically show endodontic disease and hard tissue loss. Skeletal features: Disproportionate/shortened growth and early-onset orthopedic issues leading to chronic lameness. Ocular features: Progressive vision loss due to retinal degeneration.
Complications - Severe dental disease: frequent tooth fractures, chronic pain, early tooth loss, increased risk of oral infections and abscesses. Orthopedic disability: early lameness, arthropathy, possible joint deformities. Visual impairment progressing to blindness. Quality of life can be severely impacted without supportive care; affected dogs may require ongoing dental, orthopedic, and ophthalmic management.
Why This Matters to Breeders and Vets - Breeders using DNA testing can systematically avoid producing affected puppies and make informed decisions about carrier management to protect breed health.Veterinarians can recognize DSRA signs, advise on supportive dental/oral care, monitor for orthopedic issues, and warn owners about risk for progressive vision loss. Identifying this syndrome early allows for prompt medical or surgical intervention to maintain quality of life, as well as genetic counseling for owners
