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Article

Clinical characterisation of the CABP4-related retinal phenotype.

The British journal of ophthalmology - 1 Mar 2013

Khan Arif O, Alrashed May, Alkuraya Fowzan S

Abstract excerpt

BACKGROUND: Calcium binding protein 4 (CABP4), specifically located in photoreceptor synaptic terminals, has been associated with congenital stationary night blindness based on this clinical diagnosis being made for three individuals from two Swiss families with CABP4 mutations; however, the few reported cases limit phenotype-genotype correlation. We expand the number of reported patients with CABP4 mutations and...

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Source

Identifiers

PMID: 23099293
DOI: 10.1136/bjophthalmol-2012-302186

Genes

CABP4

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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