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Progressive Retinal Atrophy - rcd3 (Corgi/Crested Type) Overview

Progressive Retinal Atrophy - rcd3 (Corgi/Crested Type)
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Category: Ophthalmologic - Associated with the eyes and associated structures

Gene: Phosphodiesterase 6A (PDE6A) on Chromosome 4

Variant Detected: Nucleotide Deletion c.1939delA p.Asn616Thr

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: Progressive retinal Atrophy, Rod-cone dysplasia 3 is an inherited eye disease affecting dogs. Progressive retinal atrophy, Rod-cone dysplasia 3 occurs as a result of degeneration of both rod and cone type Photoreceptor Cells of the Retina, which are important for vision in dim and bright light, respectively. Affected dogs have abnormal thinning and degeneration of the retina beginning around 4 weeks of age. Signs of progressive retinal atrophy including changes in reflectivity and appearance of a structure behind the retina called the Tapetum that can be observed on a veterinary eye exam by 6 to 16 weeks of age. Rod photoreceptor cells degenerate first resulting in loss of peripheral vision and night vision. As the disease progresses, cone photoreceptor cells also degenerate resulting in complete blindness. Most affected dogs are completely blind by 1 year of age, but some may retain limited sight until 3 to 4 years of age.

Research Citation(s): Petersen-Jones SM, et al. cGMP phosphodiesterase-alpha mutation causes progressive retinal atrophy in the Cardigan Welsh corgi dog. (1999) Invest Ophthalmol Vis Sci 40(8):1637-1644

Associated Breed(s): Cardigan Welsh Corgi,  Chinese Crested,  Mixed Breed,