This progressive retinal atrophy is an inherited late-onset blindness condition seen in Abyssinian, Somali, and some Ocicat and other breeds. Affected cats have normal vision at birth that slowly degenerates to blindness.
Feline polycystic kidney disease (PKD1) is a heritable form of polycystic kidney disease commonly seen in Persians and cats with Persian ancestry. Affected cats develop cysts on their kidneys, which often leads to renal failure at a later stage.
Mucopolysaccharidosis VI is an inherited lysosomal storage disease that has mild and severe forms. Signs may include retarded growth, wide faces with shortened noses, reduced flexibility, and degenerative joint disease.
Four mutations that produce long-haired coats in domestic cats have been identified in a single gene. Three of the mutations are fairly breed specific, while the fourth is present in all long-haired cat breeds and crossbreds.
Cats affected by hypertrophic cardiomyopathy (HCM) are at risk of sudden cardiac death. In Ragdoll cats, a breed-specific mutation has been found to be associated with increased risk for HCM.
Dilute is an autosomal recessive trait that causes clumping and uneven distribution of pigment granules in the hair shaft, producing dilution of all coat colors.
Cats with colored 'points' have genetic mutations associated with temperature-sensitive pigment production. Pigment production is reduced in warmer areas of the body, leading to darker pigmentation in the cat's cooler extremities (paws, ears, etc.)