Could thiamine supplementation delay the progression of retinal dystrophy in Rogers syndrome?

Thiamine-responsive megaloblastic anemia (TRMA) syndrome is a rare defect of thiamine transport caused by biallelic SLC19A2 gene mutations. It is characterized by a triad of diabetes mellitus, megaloblastic anemia responsive to thiamine, and sensorineural hearing loss. The pigmentary retinopathy associated with this syndrome remains poorly investigated. Furthermore, while thiamine supplementation is known to reverse some of the systemic features of this syndrome, its therapeutic role in managing the pigmentary retinopathy remains unknown. We report a longitudinal characterization of TRMA syndrome-associated pigmentary retinopathy in a 47-year-old female. Multimodal assessment included color fundus photography, fundus autofluorescence imaging, spectral domain optical coherence tomography, Goldmann kinetic perimetry, and multifocal electroretinography. Genetic testing was performed with whole genome sequencing. The remarkably modest progression of this patient's retinopathy over the course of nearly two decades raises the possibility that long-term thiamine supplementation may delay the progression of TRMA syndrome-associated pigmentary retinopathy.