Ocular Manifestation of Ataxia with Isolated Vitamin E Deficiency

Ataxia with Isolated Vitamin E deficiency (AVED) is an autosomal recessive neurodegenerative disease. The present study reports the case of a 37-year-old patient. Followed since 12 years for Ataxia with Isolated Vitamin E Deficiency, supplemented with vitamin E, stopped for 4 years ago. The ophthalmological examination found a vertical nystagmus, corrected visual acuity at 8/10 to the right and left. Normal anterior segment were seen in both eyes. AVED is clinically characterized by progressive cerebellar ataxia, dysarthria, loss of proprioception and sense of vibration, and the absence of tendon and extensor plantar reflex. Vitamin E prevents lipid oxidation in membranes, is normally present in high concentrations in the photoreceptors of the outer segments in the retina. These results identify abnormalities of the a-TTP gene as a cause of retinitis pigmentosa. Present study emphasizes the importance of serum vitamin E screening in patients with spinocerebellar degeneration resembling Friedreich's ataxia, particularly if the clinical features include retinitis pigmentosa, since this neurological disorder can be arrested by appropriate supplementation with vitamin E.