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Oculocutaneous Albinism (Small Breed Type)

Oculocutaneous Albinism (OCA) in small dog breeds is a genetic condition causing a lack of pigment in the hair, skin, and eyes, leading to sensitivity to bright light and increased risk of skin tumors.

Affected Genes: SLC45A2

Inheritance: Autosomal Recessive

Variant(canFam6):
chr4:73483010: G>A

Breed: French Bulldog
Lhasa Apso
Pekingese
Pomeranian

General Information: Oculocutaneous Albinism (OCA) in small dog breeds, such as French Bulldogs, Lhasa Apsos, Pekingese, and Pomeranians, is an inherited pigmentation disorder that results in a generalized lack of melanin. Affected dogs are typically born with completely white hair, pale eyes, and pink skin, including pink lips, eye rims, foot pads, and noses. This lack of pigment makes them particularly sensitive to bright light, often causing discomfort and photophobia. Additionally, the absence of melanin increases the risk of developing melanocytic tumors on areas like the lips, skin, eyelids, and irises. Despite these sensitivities, dogs with OCA generally lead normal lives with appropriate care, which includes avoiding prolonged sun exposure and undergoing regular veterinary checks to monitor for potential skin or eye issues related to their condition.

How to Read Your Dog's Test Results for this Genetic Variant:

Two Variants Detected: Dog Likely Affected

One Variant Detected: Dog Unlikely Affected

No Variants Detected: No Effect

Gene / Testing Information: Genetic testing for the SLC45A2 gene is crucial for identifying carriers of the mutation responsible for Oculocutaneous Albinism (OCA) in small dog breeds. This condition is inherited in an autosomal recessive manner, meaning a dog must inherit two copies of the mutated gene, one from each parent, to develop the disease. Dogs carrying only one copy of the mutation (carriers) typically do not show any symptoms but can pass the gene to their offspring. When two carriers are bred, each puppy has a 25% chance of being affected by OCA and a 50% chance of being a carrier. Reliable genetic testing is essential for responsible breeding practices to avoid mating two carriers, thereby reducing the risk of producing puppies with OCA. By identifying carriers and making informed breeding decisions, breeders can help eliminate this condition from small dog breed populations, promoting healthier and more resilient future generations. It is also important to consider that while genetic testing for the SLC45A2 mutation reduces the risk of OCA, other genetic or environmental factors may still influence similar conditions, necessitating comprehensive genetic screening and management.

References:
Wijesena HR, Schmutz SM. A Missense Mutation in SLC45A2 Is Associated with Albinism in Several Small Long Haired Dog Breeds. J Hered. 2015 106(3):285-288.