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Article

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

Human molecular genetics - 1 May 1995

Bergen A A, ten Brink J B, Riemslag F, Schuurman E J, Tijmes N

Abstract excerpt

X-linked congenital stationary night blindness (CSNBX) is a non-progressive retinal disorder characterized by decreased visual acuity and loss of night vision. CSNBX is clinically heterogeneous with respect to the involvement of retinal rods and/or cones in the disease. In this study, we localize a new locus for CSNBX to Xp21.1, thus providing evidence that CSNBX is also genetically heterogeneous. A clear...

Topics

Chromosome Mapping
Female
Genetic Linkage
Genotype
Humans
Male
Night Blindness
Pedigree
Phenotype
Retinitis Pigmentosa
X Chromosome

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 7633454
DOI: 10.1093/hmg/4.5.931

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7633454-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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