Atypical retinopathy in ataxia with vitamin E deficiency: report of a sibship

We describe two patients with AVED belonging to the same consanguineous sibship. Both presented an unusual retinopathy consisting of scattered, multifocal, nummular, hyperautofluorescent atrophic retinal patches. The retinopathy remained stable under vitamin E supplementation. We hypothesize these changes to be the result of arrested AVED-related RP following early supplementation with α-tocopherol acetate.
Source: Neurogenetics - Category: Genetics & Stem Cells Source Type: research