Case report on a de novo variant in the X-linked <i>PRPS1</i> gene presenting with retinal dystrophy, severe tremors, and ataxia in a female patient

<b>Case Summary</b> The patient is a 42-year-old female who presented with a de novo missense variant in the <i>PRPS1</i> gene. Her phenotype includes asymmetric retinal dystrophy with sensory esotropia, congenital sensorineural hearing loss, neuropathy, and severe tremors with recent-onset ataxia. This contributes a new presentation of ophthalmic and neurological findings to the literature.