Oculocutaneous Albinism (Small Breed Type)

Common Symptoms

Oculocutaneous albinism (small breed type) is an inherited condition of pigmentation affecting dogs. Affected dogs are born with a generalized lack of pigment resulting in all white hair, pale eyes, and pink skin, lips, eye rims, foot pads, and nose. Dogs with this condition exhibit sensitivity to bright light and are prone to melanocytic tumors of the lips, skin, eyelids, and irises. Dogs with this condition typically lead a normal life.

Testing Tips

Genetic testing of the SLC45A2 gene will reliably determine whether a dog is a genetic Carrier of oculocutaneous albinism (small breed type). Oculocutaneous albinism (small breed type) is inherited in an Autosomal Recessive manner in dogs meaning that they must receive two copies of the mutated gene (one from each parent) to develop the disease. In general, carrier dogs do not have features of the disease but when bred with another carrier of the same Mutation, there is a risk of having affected pups. Each pup that is born to this pairing has a 25% chance of inheriting the disease and a 50% chance of inheriting one copy and being a carrier of the SLC45A2 gene mutation. Reliable genetic testing is important for determining breeding practices. In order to eliminate this mutation from breeding lines and to avoid the potential of producing affected pups, breeding of known carriers to each other is not recommended. Dogs that are not carriers of the mutation have no increased risk of having affected pups.

There may be other causes of this condition in dogs and a normal result does not exclude a different mutation in this gene or any other gene that may result in a similar genetic disease or trait.

References

• Wijesena HR, Schmutz SM. A Missense Mutation in SLC45A2 Is Associated with Albinism in Several Small Long Haired Dog Breeds. J Hered. 2015 May-Jun;106(3):285-8. doi: 10.1093/jhered/esv008. [PubMed: 25790827]