PRA, Rod-Cone Dysplasia 3 (PRA-rcd3)

£40.00

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Petagenics works very closely with the UK Kennel Club, and as such, agree to send to the Kennel Club tests results of ALL Kennel Club registered dogs, irrelevant of status (clear, carrier, affected). You (the customer), hereby agree to Petagenics forwarding your dogs test results to the Kennel Club, should you object to your dogs results being included in the results sent to the Kennel Club, then you should indicate here.
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Description

Other Names:
Rod-cone dysplasia 3, PRA-rcd3
Inheritance:
Autosomal Recessive
Mutation(s):
1 bp deletion (del A)
Affected Gene(s):
PDE6A
Affected Breed(s):
Cardigan Welsh Corgi, Chinese Crested, Pembroke Welsh Corgi, Pomeranian

Common Symptoms

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.

References

  • Keep JM. Clinical aspects of progressive retinal atrophy in the cardigan Welsh corgi. Aust Vet J. 1972 Apr;48(4):197-9. [PubMed: 5082485]
  • Petersen-Jones SM, Entz DD, Sargan DR. cGMP phosphodiesterase-alpha mutation causes progressive retinal atrophy in the Cardigan Welsh corgi dog. Invest Ophthalmol Vis Sci. 1999 Jul; 40(8):1637-44. [PubMed: 10393029]
  • Petersen-Jones SM, Entz DD. An improved DNA-based test for detection of the codon 616 mutation in the alpha cyclic GMP phosphodiesterase gene that causes progressive retinal atrophy in the Cardigan Welsh Corgi. Vet Ophthalmol. 2002 Jun;5(2):103-6. [PubMed: 12071867]
  • Petersen-Jones SM, Zhu FX. Development and use of a polymerase chain reaction-based diagnostic test for the causal mutation of progressive retinal atrophy in Cardigan Welsh Corgis. Am J Vet Res. 2000 Jul; 61(7):844-6. [PubMed: 10895911]
  • Tuntivanich N, Pittler SJ, Fischer AJ, Omar G, Kiupel M, Weber A, Yao S, Steibel JP, Khan NW, Petersen-Jones SM. Characterization of a canine model of autosomal recessive retinitis pigmentosa due to a PDE6A mutation. Invest Ophthalmol Vis Sci. 2009 Feb; 50(2):801-13. [PubMed: 18775863]