Work

A Novel N‐Terminal PRPF6 Variant in Autosomal Dominant Retinitis Pigmentosa

Year: 2026

Type: article

Abstract: ABSTRACT This report identifies the first N‐terminal PRPF6 variant (c.514C>T) as a cause of autosomal dominant Retinitis Pigmentosa. This novel variant is associated with progressive peripheral vision loss but notably preserved central visual acuity, suggesting a distinct phenotypic expression compared to C‐terminal variants.

Source: Clinical Case Reports

DOI: 10.1002/ccr3.71783

Authors: Na Li, Yalong Dang

Institution: Henan University of Science and Technology

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: gold

Estimated APC paid: $1,820