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

doi:10.1167/iovs.66.6.22

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Article

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

Investigative ophthalmology & visual science - 2 Jun 2025

Ba-Abbad Rola, Peshenko Igor V, Daich Varela Malena, Lin Siying, Arno Gavin, Mahroo Omar A, Egan Catherine, Robson Anthony G, Olshevskaya Elena V, Dizhoor Alexander M, Webster Andrew R

Abstract excerpt

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...

Topics

Humans
Night Blindness
Electroretinography
Male
Female
Guanylate Cyclase
Adult
Alleles
Visual Acuity
Receptors, Cell Surface
Pedigree

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

HEK293 Cells

Middle Aged

Young Adult

Myopia

Genotype

Mutation

Child

Source

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Identifiers

PMID: 40478561
DOI: 10.1167/iovs.66.6.22
PMCID: PMC12155690

Genes

GUCY2D
ERG

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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