Optic Neuropathy in Riboflavin Transporter Deficiency (Brown-Vialetto Van Lear syndrome)

Brown-Vialetto-Van-Laere syndrome (BVVL), is a rare autosomal recessive degenerative disorder, associated with mutations in the SLC52A2 and SLC52A3 genes, thought to be involved in the transport of riboflavin. Manifestations include motor neuronopathy (proximal / distal limb weakness, severe distal wasting and can lead to paralysis of the diaphragm), sensory neuronopathy ( gait ataxia) and cranial neuronopathy (manifesting as optic atrophy, sensorineural deafness, bulbar palsy). Onset is usually in infancy or in childhood. Typical initial finding is sensorineural deafness, which is usually progressive and severe.