Cone Degeneration

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Test Overview:

Cone degeneration (cd) is an autosomal recessive canine disease that occurs naturally in the Alaskan Malamute and German Shorthaired Pointer breeds. It is phenotypically similar to human achromatopsia, a heterogeneous autosomal recessive disorder associated with three distinct loci. Both the canine disease and its human counterparts are characterized by day-blindness and absence of retinal cone function in adults.

Category:

Ophthalmologic - Associated with the eyes and associated structures

Gene:

CNGB3 on Chromosome 29

Variant Detected:

Base Substitution of G>A

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):

Human Molecular Genetics, Volume 11, Issue 16, 1 August 2002, Pages 1823–1833, https://doi.org/10.1093/hmg/11.16.1823