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Article

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

Human genetics - 1 Jul 2000

Jacobi F K, Broghammer M, Pesch K, Zrenner E, Berger W, Meindl A, Pusch C M

Abstract excerpt

X-linked congenital stationary night blindness (CSNB) is a nonprogressive retinal disorder characterized by impaired night vision, variably involving high myopia, nystagmus, decreased visual acuity, and strabismus. Linkage studies have identified two distinct loci for X-linked CSNB1 and CSNB2 on the short arm of chromosome X. The gene mutated in families displaying the "incomplete phenotype" of CSNB (i.e., CSNB2)...

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Source

Identifiers

PMID: 10982042
DOI: 10.1007/s004390000337

Genes

GPR34

Provenance

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.

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