Dog

Achromatopsia, also known as Early Cone Degeneration, causes daytime blindness due to degeneration of the retinal cones. It can be diagnosed in the first few weeks of a puppy's life. Affected dogs become colour blind and photophobic.

Von Willebrand disease is a condition that causes excessive bleeding due to a deficiency or reduced levels of von Willebrand factor (vWF), a blood clotting protein.

This mutation is found in the Chinese Crested dog, but homozygous dogs do not appear to show clinical signs of bleeding disorders.

Unilateral deafness associated with a vestibular syndrome is a genetic condition linked to an abnormality of the inner ear. It can result in hearing loss on one side as well as balance disorders.

The observed clinical signs include head tilt, circling movements, lack of limb coordination, and abnormal eye movements.

In the Doberman, a disease presenting similar symptoms has been described and is associated with a mutation of the MYO7A gene. For more information, please consult the page: DOG-DINGS.

Cerebral neuronal lipofuscinosis type 8 (NCL8) is a hereditary neurodegenerative disease observed in certain breeds such as the German Shorthaired Pointer and the Australian Shepherd. Puppies develop normally until 12–14 months of age, after which signs of neurological degeneration appear, including visual impairment, repetitive behaviors, and decreased responsiveness to commands. The disease progresses to blindness, ataxia, and loss of motor function in the limbs, accompanied by frequent epileptic seizures. Due to the severity of symptoms and rapid progression, affected animals are often euthanized before 27 months of age.

PRA associated with the BBS2 gene is a hereditary form of progressive retinal degeneration characterized by damage to photoreceptor cells, leading to gradual vision loss. This progressive condition typically begins with reduced night vision and advances to complete blindness, with a variable rate of progression between individuals. Ophthalmoscopic examination reveals typical signs of bilateral retinal degeneration, including retinal thinning and vascular changes. In advanced stages, secondary complications such as cataracts may develop.

Von Willebrand disease is a condition that causes excessive bleeding due to a lack or reduced level of von Willebrand factor (vWF), a blood clotting protein. 

Pyruvate kinase is an essential enzyme for energy production in red blood cells. Clinical signs are anaemia, weakness, hepatosplenomegaly. Bone marrow and liver failure usually occur before the age of 5 years. Heterozygous animals (healthy carriers) show no clinical signs, but have reduced levels of pyruvate kinase activity. Bone marrow transplants have been used to alleviate clinical signs in affected dogs.

Skeletal dysplasia type 3 is an inherited condition described notably in the Vizsla, associated with a variant in the PCYT1A gene. It primarily results in reduced shoulder height in homozygous dogs, with notable individual variability. The skeletal abnormalities mainly affect the limbs, with shortened, thickened, and deformed bones visible on imaging. Despite these structural changes, affected dogs do not consistently show obvious clinical signs in the short term. However, long-term monitoring is recommended to assess potential orthopedic consequences with age.

Muscle hypertrophy in whippets, sometimes called “bully,” is a genetic trait that results in a highly developed musculature, particularly in the neck and limbs.
Affected dogs have a broad chest and generally do not conform to the breed standard, which favors a slim body, long neck, and pointed muzzle.
Whippets carrying a single copy of the mutation show moderate muscular development but are often faster than dogs homozygous for the normal allele, providing a performance advantage.

Von Willebrand disease is a condition that causes excessive bleeding due to a lack or reduced level of von Willebrand factor (vWF), a blood clotting protein.