Disease overview

Dental-skeletal-retinal anomaly (DSRA) is a type of skeletal dysplasia that results in abnormal development and growth of the skeleton and other organs. Abnormalities in the teeth, disproportionate growth, and retinal degeneration are clinical signs associated with this disease.

Gene name

MIA3

Inheritance

Autosomal recessive

Signs and symptoms

Dogs affected by DSRA may present with teeth that are brittle, discolored, and translucent. Progressive retinal degeneration may lead to blindness. Disproportionate growth may occur.

How is it diagnosed

A veterinarian will conduct a thorough exam, including a review of health history and any clinical signs. Oral exams and thorough eye exams may be indicated. Genetic testing is necessary to determine if there is an underlying genetic cause, which can assist veterinarians with diagnosis and help breeders identify affected and carrier dogs.

Breeds at higher risk

Italian Cane Corso

Citations

Christen M, Booij-Vrieling H, Oksa-Minalto J, de Vries C, Kehl A, Jagannathan V, Leeb T. MIA3 Splice Defect in Cane Corso Dogs with Dental-Skeletal-Retinal Anomaly (DSRA). Genes (Basel). 2021 Sep 25;12(10):1497. doi: 10.3390/genes12101497. PMID: 34680893; PMCID: PMC8535341.

Disclaimer

Disease diagnosis and treatment should always be performed by a veterinarian. The following information is for educational purposes only.