X-chromosomale retinale Dysplasie (XLRD)
X-linked retinal dysplasia (XLRD)
General description
A variant in the gene NDP causing X-linked retinal dystrophy was identified in the breed English Cocker Spaniel. Affected puppies showed behavioural signs suggestive of severe visual deficits in unfamiliar surroundings.
Breeds
English Cocker Spaniel
Order details
| Test number | 8941 |
| Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
| Test duration | 7-14 working days |
Test specifications
| Symptom complex | ophthalmic |
| Inheritance | X-chromosomal recessive |
| Gene | NDP |
| Mutation | INS |
| Literature | OMIA:002348-9615 |
Detailed description
A variant in the gene NDP causing X-linked retinal dystrophy 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.
