Multifocal retinopathy 1

Other Names:
Canine multifocal retinopathy 1, CMR1
Inheritance:
Autosomal Recessive
Mutation(s):
C>T
Affected Gene(s):
BEST1
Affected Breed(s):
American Bulldog, Aussiedoodle, Australian Shepherd, Brazilian Terrier, Bulldog, Bullmastiff, Cane Corso, Dogue de Bordeaux, French Bulldog, Great Pyrenees, Mastiff, Miniature American Shepherd, Miniature Australian Shepherd, Perro de Presa Canario, Shorty Bull, South African Boerboel, Toy Australian Shepherd

Common Symptoms

Multifocal retinopathy 1 is an inherited disorder of the retina affecting several breeds of dog. Affected dogs typically present between 11 and 16 weeks of age with multiple discrete circular areas of retinal detachment with underlying fluid accumulation that are visible on an eye exam performed by a veterinarian. These blister-like lesions are typically found in both eyes and can appear gray, tan, orange or pink and vary in number, size and location. Progression of retinal changes is usually slow and new lesions are not noted after 6 to 12 months of age. Occasionally as affected dogs age, lesions appear to heal and are no longer visible on an eye exam. Generally the dog’s vision is not affected although vision loss has been described in some cases of multifocal retinopathy 1.

References

  • Gornik KR, Pirie CG, Duker JS, Boudrieau RJ. Canine multifocal retinopathy caused by a BEST1 mutation in a Boerboel. Vet Ophthalmol. 2013 Sep 3. doi: 10.1111/vop.12095. [PubMed: 23998685]
  • Grahn BH, Philibert H, Cullen CL, Houston DM, Semple HA, Schmutz SM. Multifocal retinopathy of great Pyrenees dogs. Vet Ophthalmol. 1998;1(4):211-221. [PubMed: 11397233]
  • Guziewicz KE, Slavik J, Lindauer SJ, Aguirre GD, Zangerl B. Molecular consequences of BEST1 gene mutations in canine multifocal retinopathy predict functional implications for human bestrophinopathies. Invest Ophthalmol Vis Sci. 2011 Jun; 52(7):4497-505. [PubMed: 21498618]
  • Hoffmann I, Guziewicz KE, Zangerl B, Aguirre GD, Mardin CY. Canine multifocal retinopathy in the Australian Shepherd: a case report. Vet Ophthalmol. 2012 September; 15(0 2): 134–138. [PubMed: 22432598]

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