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Achromatopsia Overview

Achromatopsia
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Category: Ophthalmologic (Associated with the Eyes)

Gene: CNGB3

Variant Detected: c.784G>A

Severity: Scale 3 has a moderate degree of severity, as it is not a fatal disease, though it can decrease the quality of life.

Mode of Inheritance: Autosomal Recessive

Test Overview: Cone degeneration German shorthaired pointer type (CD) is an inherited disorder affecting German shorthaired pointer breed. Except the German shorthaired pointers, cone degeneration has until now been identified also in Alaskan malamutes and miniature Australian Shepherd. The disorder has been identified for the first time in the 1960’s in a strain of inbred Alaskan malamute dogs. Phenotypically, as well as genetically, characteristics of cone degeneration are similar to the achromatopsia, an inherited disease in human beings. This is the reason why the cone degeneration (CD) is being used as a canine model of human achromatopsia. First symptoms of cone degeneration usually occur after the retinal development is normally completed, which is between 8 and 12 weeks of age in the affected dog. These symptoms are recognizable only in the day light, and they are day blindness and photophobia. In dim light, the symptoms are not obvious and vision in dim light remains normal. After the cub’s birth, cones develop normally, but with time they lose their function and their inner and outer segments start to degenerate. This events are followed with gradual loss of cones throughout the animal’s lifetime.

Research Citation(s): Sidjanin, J., D., (2002): Canine CNGB3 mutations establish cone degeneration as orthologous to the human achromatopsia locus ACHM3. Oxford University Press. Human Molecular Genetic, Vol. 11, No. 16. 1823-1833.
Yeh, C., Y., (2013): Genomic deletion of CNGB3 is identical by descent in multiple canine breeds and causes achromatopsia. BMC genetics 2013, 14:27.


Associated Breed(s): German Shorthaired Pointer,  Mixed Breed,