Retinopathy with Vitamin E Deficiency

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.