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Multifocal Retinopathy 2

Multifocal Retinopathy 2 is an inherited retinal disorder in dogs, causing multiple areas of retinal detachment that can potentially lead to vision issues.

Affected Genes: BEST1

Inheritance: Autosomal Recessive

Variant(canFam6):
chr18:53058446: C>T

Breed: Coton de Tulear

General Information: Multifocal Retinopathy 2 is an inherited retinal disorder in dogs, typically presenting around 15 weeks of age. Affected dogs develop multiple discrete circular areas of retinal detachment with fluid accumulation, visible as blister-like lesions in both eyes during an eye exam performed by a veterinarian. These lesions can appear in varying shades of gray, tan, orange, or pink, differing in number, size, and location. The progression of retinal changes is usually slow, with no new lesions forming after 6 to 12 months of age, and in some cases, lesions may heal and become undetectable as the dog ages. Although this condition often does not affect vision, some dogs may experience vision loss, emphasizing the importance of early detection and monitoring.

How to Read Your Dog's Test Results for this Genetic Variant:

Two Variants Detected: Dog Likely Affected

One Variant Detected: Dog Unlikely Affected

No Variants Detected: No Effect

Gene / Testing Information: Genetic testing of the BEST1 gene can determine if a dog is a carrier of Multifocal Retinopathy 2, an autosomal recessive disorder. A dog must inherit two copies of the mutated gene (one from each parent) to develop the disease, while carriers with one copy do not exhibit symptoms but can pass the mutation to their offspring. Breeding two carriers together results in a 25% chance of producing affected pups and a 50% chance of producing carrier pups. Reliable genetic testing is crucial for informed breeding decisions to prevent the birth of affected puppies. Since visual deficits are not always evident and lesions can regress as dogs age, it is recommended to perform genetic testing before breeding to help eliminate the mutation from breeding lines and reduce the risk of producing affected pups.

References:
Guziewicz KE, Zangerl B, Lindauer SJ, Mullins RF, Sandmeyer LS, Grahn BH, Stone EM, Acland GM, Aguirre GD. Bestrophin gene mutations cause canine multifocal retinopathy: a novel animal model for best disease. Invest Ophthalmol Vis Sci. 2007 48(5):1959-1967.

Zangerl B, Wickström K, Slavik J, Lindauer SJ, Ahonen S, Schelling C, Lohi H, Guziewicz KE, Aguirre GD. Assessment of canine BEST1 variations identifies new mutations and establishes an independent bestrophinopathy model (cmr3). Mol Vis. 2010 16:2791-2804.