Ataxia with isolated vitamin E deficiency(AVED)
Also known as: Ataxie mit isoliertem Vitamin-E-Mangel · Vitamin E deficiency ataxia · Familial isolated vitamin E deficiency · Tocopherol transfer protein deficiency · RVED · …
Overview
What it is
This is an inherited neurological and ocular disorder caused by a genetic mutation that prevents the body from properly transporting and using vitamin E. Without this essential nutrient, cells experience oxidative damage, leading to progressive degeneration of the nervous system and the retina of the eyes. In English Cocker Spaniels, this condition is also referred to as Retinopathy with Vitamin E Deficiency (RVED).
How it presents
Owners will typically notice coordination problems, such as an unsteady gait or tremors, alongside progressive vision loss. These symptoms usually begin to appear during puppyhood or adolescence.
Treatment
The condition is manageable through lifelong, high-dose vitamin E supplementation, which must be started before permanent damage occurs. Lifetime costs for specialized supplements and regular veterinary check-ups typically range from 1,500 to 5,000 EUR.
How it's tested
AVED DNA-Test(AVED)
Primary testDNA testEin Gentest zum Nachweis der Mutation im TTPA-Gen, die zu einem gestörten Vitamin-E-Transport und fortschreitender Ataxie führt.
Issuing body: Labogen
Result scheme: Clear/Carrier/Affected
Affected breeds
Treatment cost
Estimated range of typical treatment cost. Actual cost depends on severity, clinic and region.
Frequently asked
What is Ataxia with isolated vitamin E deficiency?
This is an inherited neurological and ocular disorder caused by a genetic mutation that prevents the body from properly transporting and using vitamin E. Without this essential nutrient, cells experience oxidative damage, leading to progressive degeneration of the nervous system and the retina of the eyes. In English Cocker Spaniels, this condition is also referred to as Retinopathy with Vitamin E Deficiency (RVED).
How is Ataxia with isolated vitamin E deficiency tested?
Tests currently in our database: AVED DNA-Test.
Which breeds are most affected?
This condition isn't tied to a specific breed in our database.