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.