A Novel N‐Terminal PRPF6 Variant in Autosomal Dominant Retinitis Pigmentosa
Na Li, Yalong Dang
TL;DR
A new genetic variant in PRPF6 is linked to a specific form of inherited eye disease with unique vision loss patterns.
Contribution
The first N-terminal PRPF6 variant is identified as a cause of autosomal dominant Retinitis Pigmentosa.
Findings
The c.514C>T PRPF6 variant causes autosomal dominant Retinitis Pigmentosa.
The variant leads to progressive peripheral vision loss with preserved central visual acuity.
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.
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Taxonomy
TopicsRetinal Development and Disorders · Ocular Disorders and Treatments · Ocular Diseases and Behçet’s Syndrome