Ocular Aspects in Biotinidase Deficiency: Clinical and Genetic Original Studies

    Giampaolo Campana, Gabriele Valentini, M Legnaioli, Maria Luisa Giovannucci-Uzielli, E Pavari
    Studysummary This report describes a patient with biotinidase deficiency presenting bilateral optic atrophy, and confirms autosomal recessive inheritance through enzyme dosage analysis in the patient and family members.
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