Clinical and Biochemical Characterization of Specific GUCY2D Alleles Associated With a Rare Form of Night Blindness.

ABSTRACT:

Purpose

To clinically and biochemically characterize a rare autosomal recessive rod-cone dysfunction, with electroretinographic similarities to some forms of stationary night blindness (SNB), associated with biallelic variants in GUCY2D.

Methods

Six patients from five families with a history of longstanding night blindness, no fundus features suggestive of retinitis pigmentosa, and an unusual electroretinographic phenotype were ascertained. Clinical examination and genotyping were performed. Selected GUCY2D variants were tested for binding to and activation by guanylate cyclase-activating proteins (GCAPs) in HEK293 cells.

Results

The visual acuity was normal or moderately reduced (20/20-20/60) with three patients having a tritan defect on color vision testing. Retinal

SUBMITTER: Ba-Abbad R 

PROVIDER: S-EPMC12155690 | biostudies-literature | 2025 Jun

REPOSITORIES: biostudies-literature