Retinopathy with Vitamin E Deficiency
Kodas: H164
Short description
Retinopathy with isolated vitamin E deficiency (RVED), also known as ataxia with isolated vitamin E deficiency (AVED), is a hereditary neurological disease originally found in English Cocker Spaniels.
General information
Retinopathy with isolated vitamin E deficiency (RVED), also known as ataxia with isolated vitamin E deficiency (AVED), is a hereditary neurological disease originally found in English Cocker Spaniels. It is caused by an autosomal recessive mutation in the alpha-tocopherol transfer protein gene (TTPA). This gene encodes a protein that plays a critical role in the transport of vitamin E throughout the body, including the retina. The mutation leads to a loss of protein function, resulting in vitamin E deficiency. This deficiency can cause vision impairment such as retinal degeneration and, in some cases, neurological dysfunction.
Specifications
| Breeds | Polish Lowland Sheepdog, English Cocker Spaniel, Field Spaniel |
|---|---|
| Gene | TTPA |
| Chromosome | 29 |
| Mutation | c.23_124del |
| Organ | Nervous System |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | AVED |
Clinical features
Clinical signs of retinopathy include night blindness (nyctalopia), retinal pigmentary changes, progressive blindness, and visual field constriction. The age of onset is not precisely known, as affected dogs are often diagnosed late in the disease course.
References
Pubmed ID: 39874248
Year published: 2025
Omia ID: 2922
Omia variant ID:
Turnaround information
- 10 working days