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Article

Unusual OCT findings in a patient with CABP4-associated cone-rod synaptic disorder.

Documenta ophthalmologica. Advances in ophthalmology - 1 Apr 2024

Tan Jit Kai, Arno Gavin, Josifova Dragana, Mohamed Moin D, Mahroo Omar A

Abstract excerpt

PURPOSE: Bi-allelic variants in CABP4 are associated with congenital cone-rod synaptic disorder, which has also been classified, electrophysiologically, as incomplete congenital stationary night blindness (iCSNB). We describe clinical findings in a patient who demonstrated an unusual macular optical coherence tomography (OCT) phenotype, not previously reported in this condition. METHODS: Our patient underwent...

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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: 38206458
DOI: 10.1007/s10633-023-09961-8
PMCID: PMC10954985

Genes

CABP4
CACNA1F
ERG

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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