Genetic Test
The CNGA3 (Cyclic Nucleotide-Gated Channel Alpha 3) gene encodes a protein that forms the cGMP-gated ion channel in cone photoreceptor cells, playing a crucial role in converting light stimuli into electrical signals.
Mutations in this gene disrupt cGMP signaling in cone cells, impairing visual signal processing, which leads to decreased daytime vision and color perception deficits.
Disease Description
Achromatopsia caused by CNGA3 mutations in dogs is a rare hereditary disorder characterized by loss of cone photoreceptor function.
Affected dogs exhibit decreased vision and color blindness (or complete achromatopsia) under bright light conditions, a condition also known as day blindness.
In low-light environments, such as at night or indoors, their vision is relatively normal.
However, exposure to bright sunlight causes significant visual impairment, glare, and photophobia, leading to difficulties in normal activities.
This disorder follows an autosomal recessive inheritance pattern.
