Boerboel

CMR1 - Multifocal Retinopathy

Retinal detachments

Description: Retinal pigment epithelial dysplasia causing localized multifocal retinal detachments

Symptoms : In the mild form, no vision disorders are reported despite the abnormal retina. In the severe form, lesions can lead to blindness

Age of onset : Before 4 months old

Frequency : Not available

Gene involved : BEST1

Tested mutation : c.73C>T

Transmission : Autosomal Recessive

Patent : _

Notes : _

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Boerboel

HUU - Hyperuricosuria

Predisposition to urate bladder stones

Description: Metabolic disorder resulting in elevated levels of uric acid in blood and urine. This trait predisposes dogs to form urate bladder stones

Symptoms : Difficulty urinating, blood in urine, urinary incontinence, abdominal pain. Some complications are possible: acute kidney failure, urinary tract infection, or rupture of bladder

Age of onset : Between 3 and 6 years old

Frequency :

Gene involved : SLC2A9

Tested mutation : c.616G>T

Transmission : Autosomal Recessive

Patent : _

Notes : Predisposition to urate bladder stones caused by this mutation is variable according to breeds. Most of homozygous mutated dogs never show symptoms.

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