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Multifocal Retinopathy 3

Multifocal retinopathy 3 is an inherited disorder affecting dogs' retinas, causing circular areas of detachment with fluid accumulation visible during veterinary eye exams, typically appearing between 9 months and 2 years of age. These lesions vary in color, size, and location, occasionally presenting with retinal folding, but generally do not lead to significant vision loss.



Affected Genes: BEST1

Inheritance: Autosomal Recessive

Variant(canFam6):
chr18:53053066: 1 bp deletion G

Breed: Finnish Lapphund
Lapponian Herder
Swedish Lapphund

General Information: Multifocal retinopathy 3 is an inherited canine eye disorder characterized by multiple circular areas of retinal detachment and fluid accumulation visible in both eyes, typically appearing between 9 months and 2 years of age. These lesions vary in color, size, and location, often accompanied by retinal folding. The progression of these retinal changes is generally slow, and sometimes, as dogs age, these lesions may heal and become undetectable during eye exams. While vision loss is uncommon, it has been reported in some cases of multifocal retinopathy 3.

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 identifies whether a dog carries the mutation for multifocal retinopathy 3. This condition follows an Autosomal Recessive inheritance pattern in dogs, requiring two copies of the mutated gene for disease development. While carriers typically show mild symptoms, breeding two carriers increases the risk of producing affected offspring, with each pup having a 25% chance of inheriting the disease. Reliable genetic testing is crucial for informed breeding decisions, especially since visual deficits are often absent, and lesions can resolve with age in affected dogs. Avoiding breeding between known carriers helps prevent the birth of affected pups, while dogs without the mutation face no increased risk.

References:
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.