Rod-Cone Dystrophy, Sensorineural Deafness, and Fanconi-Type Renal Dysfunction (RCDFRD)

Rod-Cone Dystrophy, Sensorineural Deafness, and Fanconi-Type Renal Dysfunction, also known as rcdfrd, is related to progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 5 and mitochondrial dna depletion syndrome 8a. An important gene associated with Rod-Cone Dystrophy, Sensorineural Deafness, and Fanconi-Type Renal Dysfunction is RRM2B (Ribonucleotide Reductase Regulatory TP53 Inducible Subunit M2B). Affiliated tissues include bone and retina, and related phenotypes are visual impairment and rod-cone dystrophy