Cone Degeneration Overview
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Category: Ophthalmologic - Associated with the eyes and associated structures
Gene: CNGB3 on Chromosome 29
Variant Detected: Base Substitution of G>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 (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.
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
Associated Breed(s): Alaskan Malamute, Mixed Breed, Labradoodle , Australian Shepherd, Miniature Australian Shepherd, Siberian Husky,