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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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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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 2 Sept 2026.

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