Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Nasal Retinal Degeneration Is a Feature of a Subset of CRX-Associated Retinopathies.

Genes - 1 Jan 2026

Massengill Michael T, Juvier Riesgo Tamara, Davis Janet L, Mendoza-Santiesteban Carlos E, Goldhagen Brian E, Lam Byron L, Gregori Ninel Z

Abstract excerpt

Background/Objectives: Genetic variants in the cone-rod homeobox (CRX) gene, a transcription factor critical for the differentiation, function, and survival of photoreceptors, are a rare cause of inherited retinal diseases (IRDs). CRX-associated retinopathies can produce variable phenotypes, including Leber congenital amaurosis (LCA), maculopathy (M), cone-rod dystrophy (CRD), and rod-cone dystrophy (RCD), such...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Child, Preschool
Share to Cone-Rod Dystrophies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Association Studies

Share to Homeodomain Proteins

Share to Leber Congenital Amaurosis

Share to Retinal Degeneration

Share to Trans-Activators

Share to Young Adult

Source

Open in PubMed Open full text

Identifiers

PMID: 41595470
DOI: 10.3390/genes17010050
PMCID: PMC12841240

Genes

CRX

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Nasal Retinal Degeneration Is a Feature of a Subset of CRX-Associated Retinopathies.PMID 41595470Read ↗

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

Clinical and Genetic Characteristics of 18 Patients from 13 Japanese Families with CRX-associated retinal disorder: Identification of Genotype-phenotype AssociationSemantic proximity Read ↗

A recurrent arcuate retinopathy in familial cone-rod dystrophy secondary to heterozygous CRX deletion.Semantic proximity Read ↗

Phenotypic and Genetic Alterations in Adult-Onset Cone and Cone-Rod Dystrophy.Semantic proximity Read ↗

Retinal degenerations with truncation mutations in the cone-rod homeobox (CRX) gene.Semantic proximity Read ↗

Clinical, Genetic, and Histopathological Characteristics of CRX-associated Retinal Dystrophies.Semantic proximity Read ↗

A mutation in CRX causing pigmented paravenous retinochoroidal atrophy.Semantic proximity Read ↗

Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies.Semantic proximity Read ↗

The phenotypic variability of retinal dystrophies associated with mutations in CRX, with report of a novel macular dystrophy phenotype.Semantic proximity Read ↗

Cone rod dystrophies.Semantic proximity Read ↗

De novo mutations in the cone-rod homeobox gene associated with leber congenital amaurosis in Chinese patients.Semantic proximity Read ↗

OTX2 loss causes rod differentiation defect in CRX-associated congenital blindness.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.