X-linked retinal dysplasia (English cocker spaniel)

General Information: X-linked Retinal Dysplasia (XLRD) is an inherited eye disorder in English Cocker Spaniels caused by a mutation in the NDP gene. This condition affects the retina of the eye, leading to retinal dysplasia, which can cause visual impairment and blindness. XLRD is inherited in an X-linked recessive manner, meaning that the condition primarily affects male dogs, while females are typically carriers of the mutation.

Symptoms of XLRD include progressive vision loss, abnormal eye movements, and sometimes visible retinal abnormalities upon eye examination. Affected dogs may have difficulty navigating their environment due to decreased vision, and the condition can result in total blindness over time. As XLRD is a progressive disease, the onset and severity of symptoms can vary between affected individuals.

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

Two Variants Detected: Dog Likely Affected

One Variant Detected: Dog Likely a Carrier

No Variants Detected: No Effect

Gene / Testing Information: Genetic testing for the NDP gene variant can determine whether an English Cocker Spaniel is at risk of developing X-linked Retinal Dysplasia. This condition is inherited in an X-linked recessive manner, meaning that male dogs who inherit one copy of the mutated gene from their mother will be affected, while female dogs typically serve as carriers and are unlikely to exhibit symptoms themselves.

Dogs with one copy of the mutation are carriers and will not show symptoms but can pass the condition to their offspring. Males with one copy of the mutation will be affected. Genetic testing is crucial for breeding decisions, as breeding an affected male with a female carrier will result in a 50% chance of producing affected male offspring and 50% carrier female offspring.