Auditory neuropathy in Brown–Vialetto–Van Laere syndrome due to riboflavin transporter RFVT2 deficiency

Manoj P. Menezes*, Katherine O'Brien, Mandy Hill, Richard Webster, Jayne Antony, Robert Ouvrier, Catherine Birman, Kirsty Gardner-Berry

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

11 Citations (Scopus)


AIM: Mutations in the genes encoding the riboflavin transporters RFVT2 and RFVT3 have been identified in Brown–Vialetto–Van Laere syndrome, a neurodegenerative disorder characterized by hearing loss and pontobulbar palsy. Treatment with riboflavin has been shown to benefit individuals with the phenotype of RFVT2 deficiency. Understanding the characteristics of hearing loss in riboflavin transporter deficiency would enable early diagnosis and therapy.

METHOD: We performed hearing assessments in seven children (from four families) with RFVT2 deficiency and reviewed results from previous assessments. Assessments were repeated after 12 months and 24 months of riboflavin therapy and after cochlear implantation in one individual. 

RESULTS: Hearing loss in these individuals was due to auditory neuropathy spectrum disorder (ANSD). Hearing loss was identified between 3 years and 8 years of age and progressed rapidly. Hearing aids were not beneficial. Riboflavin therapy resulted in improvement of hearing thresholds during the first year of treatment in those with recent-onset hearing loss. Cochlear implantation resulted in a significant improvement in speech perception in one individual.

INTERPRETATION: Riboflavin transporter deficiency should be considered in all children presenting with an auditory neuropathy. Speech perception in children with ANSD due to RFVT2 deficiency may be significantly improved by cochlear implantation.

Original languageEnglish
Pages (from-to)848-854
Number of pages7
JournalDevelopmental Medicine and Child Neurology
Issue number8
Publication statusPublished - Aug 2016
Externally publishedYes


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