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Article

OTX2 loss causes rod differentiation defect in CRX-associated congenital blindness.

The Journal of clinical investigation - 1 Feb 2014

Roger Jerome E, Hiriyanna Avinash, Gotoh Norimoto, Hao Hong, Cheng Debbie F, Ratnapriya Rinki, Kautzmann Marie-Audrey I, Chang Bo, Swaroop Anand

Abstract excerpt

Leber congenital amaurosis (LCA) encompasses a set of early-onset blinding diseases that are characterized by vision loss, involuntary eye movement, and nonrecordable electroretinogram (ERG). At least 19 genes are associated with LCA, which is typically recessive; however, mutations in homeodomain transcription factor CRX lead to an autosomal dominant form of LCA. The mechanism of CRX-associated LCA is not...

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Source

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Identifiers

PMID: 24382353
DOI: 10.1172/JCI72722
PMCID: PMC3904630

Genes

CRX
OTX2
ERG
NRL

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.

Related research

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Research trail→

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OTX2 loss causes rod differentiation defect in CRX-associated congenital blindness.PMID 24382353Read ↗

A range of clinical phenotypes associated with mutations in CRX, a photoreceptor transcription-factor gene.Semantic proximity Read ↗

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Allele-specific gene editing to rescue dominant CRX-associated LCA7 phenotypes in a retinal organoid model.Semantic proximity Read ↗

A CRX null mutation is associated with both Leber congenital amaurosis and a normal ocular phenotype.Semantic proximity Read ↗

A complete, homozygous CRX deletion causing nullizygosity is a new genetic mechanism for Leber congenital amaurosisSemantic proximity Read ↗

Dominant Leber congenital amaurosis, cone-rod degeneration, and retinitis pigmentosa caused by mutant versions of the transcription factor CRX.Semantic proximity Read ↗

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Nasal Retinal Degeneration Is a Feature of a Subset of CRX-Associated Retinopathies.Semantic proximity Read ↗

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