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H725

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

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Specifications

Breeds

Gene

Organ

specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue

Mode of Inheritance

Chromosome

Year Published

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.

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.

Additional information

References

Pubmed ID: 33945575

Omia ID: 2348

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3. Results

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