Work

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

Year: 2024

Type: article

Abstract: Case Summary: The patient is a 42-year-old female who presented with a de novo missense variant in the PRPS1 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.

Source: Ophthalmic Genetics

DOI: 10.1080/13816810.2024.2388598

Authors: Richard N. Sather, Caroline Brown, Sandra R. Montezuma

Institution: University of Minnesota

Language: English

Topic: Retinal Development and Disorders

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: hybrid

Funder: Minnesota Lions Vision Foundation