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Progressive rod-cone degeneration is one of several forms of progressive retinal atrophy (PRA), which causes the degeneration and death of retinal cells. The main symptom is progressive vision loss from the age of 3-5 years. The test can be performed for any breed, but is particularly relevant for the breeds listed below

GM1 gangliosidosis is a fatal genetic disease caused by a deficiency of the enzyme β-galactosidase. This enzyme normally helps break down certain complex lipids called gangliosides, particularly GM1 ganglioside. In the absence of this enzyme, these compounds progressively accumulate within cells, especially in nervous tissue. The disease generally manifests around the age of 3 months and reaches its terminal stage at around 9 to 10 months, with the onset of blindness and epileptiform seizures. Affected animals exhibit an unsteady gait, loss of coordination, tremors, and progressive muscle weakness, leading to severe neurological decline.

The mutation responsible for the cocoa colour in the French bulldog has been identified in the Hermansky-Pudlak syndrome 3 (HPS3) gene. Dogs homozygous for this mutation are a shade darker brown than dogs mutated for brown (Locus B).  In humans and mice, mutations in the HPS3 gene are associated with symptoms such as visual impairment, abnormal eye pigmentation and bleeding. These effects of the mutation have not been reported in dogs homozygous for the cocoa variant. ogs with two copies of the cocoa variant can be cocoa, however the final colour of the dog also depends on other genes controlling coat colour.  

The locus E or extension refers to a mutation in the MC1R gene. Dogs with one or two dominant E alleles produce eumelanin (black pigment) while dogs with two copies of the e^1 allele will have a red or yellow coat. For dogs with at least one E allele, coat colour will be determined by other genes, including the A, B, D and K locus. Two other variants of this mutation were identified in 2018: the e^2 allele found in the Australian Cattle Dog (see DOG-LOCUS-E-CATTLEDOG) and the e^3 allele in the Husky (see DOG-LOCUS-E-HUSKY).