Bilateral retinal dystrophy and unilateral hearing loss caused by mosaic phosphoribosyl pyrophosphate synthetase 1 deficiency: expanding the spectrum of an ultrarare neurometabolic disorder.

Abstract excerpt

BACKGROUND: Phosphoribosyl pyrophosphate synthetase 1 (PRPS1) deficiency is a rare neurometabolic disorder with wide spectrum of presentation. It can present in early childhood with global developmental delay, retinal dystrophy, and hearing loss, or can present as isolated neuropathy or hearing loss in adulthood. Here we describe a patient with vision impairment, fatigue, and unilateral hearing loss caused by a...

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