SLC52A2-Related Riboflavin Transporter Deficiency in Non-Isolated Auditory Neuropathy: Evidence from a Chinese Cohort and a Global Variant Review

Background/Objectives: Riboflavin transporter deficiency type 2 (RTD2), caused by biallelic pathogenic variants in SLC52A2, is a treatable neurodegenerative disorder in which auditory neuropathy may be an early manifestation. This study characterized the clinical and genetic spectrum of SLC52A2-related RTD2, with emphasis on auditory findings and geographic variation in the reported variant spectrum.

Methods

We screened unrelated probands with clinically diagnosed auditory neuropathy from a multicenter cohort for SLC52A2-related disease. Clinical, audiological, genetic, treatment, and follow-up data were reviewed. PubMed, Web of Science, and Embase were searched from inception through Feb 2026 to summarize reported SLC52A2 variants.