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Achromatopsia (Pointer Type)

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Test Overview:

also called Cone degeneration German shorthaired pointer type (CD) is an inherited disorder affecting German shorthaired pointer breed. Except the German shorthaired pointers, Achromatopsia has until now been identified also in Alaskan malamutes and miniature Australian Shepherd (different mutation). 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.

Category:

Ophthalmologic - Associated with the eyes and associated structures

Gene:

Cyclic nucleotide gated channel beta 3 (CNGB3) on chromosome 29

Variant Detected:

Base Substitution c.784G>A p.Asp262Asn Missense mutation in exon 6 (D262N, nucleotide 784)

Severity:

Low-Moderate. This disease can cause some discomfort and/or dysfunction in the affected animal. It does not generally affect life expectancy.

Mode of Inheritance:

Autosomal Recessive

Research Citation(s):

Komáromy, A.M., Rowlan, J.S., Corr, A.T., Reinstein, S.L., Boye, S.L., Cooper, A.E., Gonzalez, A., Levy, B., Wen, R., Hauswirth, W.W., Beltran, W.A., Aguirre, G.D. : Transient Photoreceptor Deconstruction by CNTF Enhances rAAV-Mediated Cone Functional Rescue in Late Stage CNGB3-Achromatopsia. Mol Ther , 2013. Pubmed reference: 23568263. DOI: 10.1038/mt.2013.50. Yeh, C.Y., Goldstein, O., Kukekova, A.V., Holley, D., Knollinger, A.M., Huson, H.J., Pearce-Kelling, S.E., Acland, G.M., Komáromy, A.M. : Genomic deletion of CNGB3 is identical by descent in multiple canine breeds and causes achromatopsia. BMC Genet 14:27, 2013. Pubmed reference: 23601474. DOI: 10.1186/1471-2156-14-27. Sidjanin, JD et al. Canine CNGB3 mutations establish cone degeneration as orthologous to the human achromatopsia locus ACHM3.(2002), Hum Mol Genet, 11;16, 1823-1833.

Associated Breed(s):

German Shorthaired Pointer, Mixed Breed,

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