X-linked retinal dysplasia (XLRD)

LABOKLIN Service ID: 8941

A variant in the gene NDP causing X-linked retinal dysplasia was identified in the breed English Cocker Spaniel. Affected puppies showed behavioural signs suggestive of severe visual deficits in unfamiliar surroundings. Symptoms were an absent dazzle and pupillary light reflexes, wandering nystagmus, darkened irises, extensive posterior segment haemorrhage as well as total retinal detachment.

Method	sequencing
Breed list	English Cocker Spaniel
Heredity	X-linked recessive
Duration	1 - 2 weeks after arrival of the sample