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Dog DNA testing illustration

Retinal Dysplasia

Code: H725

74,72 €

Sample details

One test – one sample. Animal and owner details are optional.

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Short description

X-Linked Retinal Dysplasia is a severe disorder of the eye observed in the English Cocker Spaniel, causing retinal detachment and cataracts.

General information

X-Linked Retinal Dysplasia is a severe disorder of the eye observed in the English Cocker Spaniel, causing retinal detachment and cataracts. As an X-linked recessive disorder, it is carried by females and passed down to affect males. The disorder is caused by an X-linked recessive mutation to the gene NDP. As such, it is primarily expressed in males.

Specifications

Breeds

English Cocker Spaniel
Gene

NDP
Chromosome

X
Mutation

c.653_654insC
Organ

Sensory organs
Specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue
Mode of Inheritance

X-Linked Recessive

Clinical features

Affected puppies present with the behavioral symptoms of severe visual impairment. Their pupils do not react to light, and they present with darkened irises, retinal bleeding and sometimes cataracts. Cryptorchidism (absence of at least one testicle in the scrotum) may also be linked to the disorder.

References

Pubmed ID: 33945575

Year published: 2021

Omia ID: 2348

Omia variant ID:

Turnaround information

  • 15 working days