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Article

Evidence for genetic heterogeneity in X-linked congenital stationary night blindness.

American journal of human genetics - 1 Apr 1998

Boycott K M, Pearce W G, Musarella M A, Weleber R G, Maybaum T A, Birch D G, Miyake Y, Young R S, Bech-Hansen N T

Abstract excerpt

X-linked congenital stationary night blindness (CSNB) is a nonprogressive retinal disorder characterized by disturbed or absent night vision; its clinical features may also include myopia, nystagmus, and impaired visual acuity. X-linked CSNB is clinically heterogeneous, and it may also be genetically heterogeneous. We have studied 32 families with X-linked CSNB, including 11 families with the complete form of...

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Identifiers

PMID: 9529339
DOI: 10.1086/301781
PMCID: PMC1377021

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

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Evidence for genetic heterogeneity in X-linked congenital stationary night blindness.PMID 9529339Read ↗

Localization of a novel X-linked congenital stationary night blindness locus: close linkage to the RP3 type retinitis pigmentosa gene region.Semantic proximity Read ↗

Mapping of locus for X-linked congenital stationary night blindness (CSNB1) proximal to DXS7.Semantic proximity Read ↗

Association of Missense Variants in VSX2 With a Peculiar Form of Congenital Stationary Night Blindness Affecting All Bipolar Cells.Semantic proximity Read ↗

Loss-of-function mutations in a calcium-channel alpha1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness.Semantic proximity Read ↗

An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness.Semantic proximity Read ↗

Genetic and Clinical Heterogeneity of Polish Patients with Congenital Stationary Night Blindness (CSNB).Semantic proximity Read ↗

Expanding the Genotypic Landscape of Congenital Stationary Night Blindness in an Ethnically Diverse Canadian Population.Semantic proximity Read ↗

Physical mapping and exclusion of GPR34 as the causative gene for congenital stationary night blindness type 1.Semantic proximity Read ↗

Phenotypic expression of the complete type of X-linked congenital stationary night blindness in patients with different mutations in the NYX gene.Semantic proximity Read ↗

NYX-related Congenital Stationary Night Blindness in Two Siblings due to Probable Maternal Germline Mosaicism.Semantic proximity Read ↗

Congenital Stationary Night Blindness: Clinical and Genetic Features.Semantic proximity Read ↗

Novel frameshift mutation in NYX gene in a Russian family with complete congenital stationary night blindness.Semantic proximity Read ↗

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