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Oculocutaneous Albinism (Doberman Pinscher Type)

Oculocutaneous Albinism in Doberman Pinschers is a genetic condition causing white or cream coats, light eye color, and increased sensitivity to light, often leading to skin and eye issues.

Affected Genes: SLC45A2

Inheritance: Autosomal Recessive

Variant(canFam6):
chr4:73482976-73487058

Breed: Doberman Pinscher

General Information: Oculocutaneous Albinism (OCA) is an inherited condition in Doberman Pinschers characterized by a lack of pigment in the skin, hair, and eyes. Affected dogs are born with white or cream-colored coats, pale eye color, and pink noses, lips, and eye rims. These physical traits result from a deficiency in melanin production due to a mutation in the SLC45A2 gene. Dogs with OCA are particularly sensitive to bright light, which can cause discomfort and photophobia. They are also at higher risk for developing melanocytic tumors on the lips, skin, eyelids, and irises due to the lack of protective pigmentation. Despite these vulnerabilities, affected dogs typically lead normal lives with proper care. Managing their condition includes protecting them from excessive sun exposure and regular veterinary check-ups to monitor and treat any potential health issues related to their albinism.

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 Doberman Pinschers. 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 developing 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 Doberman Pinscher populations, promoting healthier and more robust future generations. Comprehensive genetic testing and careful selection are necessary to maintain the health and well-being of the breed, ensuring that dogs are free from the potential complications associated with OCA.

References:
Winkler PA, Gornik KR, Ramsey DT, Dubielzig RR, Venta PJ, Petersen-Jones SM, Bartoe JT. A partial gene deletion of SLC45A2 causes oculocutaneous albinism in Doberman pinscher dogs. PLoS One 2014 9(3).