Retinal Dysplasia
Kodas: H725
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 | |
|---|---|
| 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
- 10 working days