Discover Community Create You

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

Novel clinical presentation of a CRX rod-cone dystrophy.

BMJ case reports - 28 Apr 2021

Gonzalez-Gonzalez Luis Alonso, Scanga Hannah, Traboulsi Elias, Nischal Ken K

Abstract excerpt

We describe a novel clinical presentation of a CRX rod-cone dystrophy in a single family. Two boys ages 6 and 12 years presented with clinical and optical coherence tomography features suggestive of X-linked retinoschisis, but with optic nerve swelling without increased intracranial pressure. One patient had an electronegative electroretinogram (ERG) and the other had rod-cone dysfunction. Neither had...

Read the complete abstract on PubMed

Topics

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

Share to Child
Share to Cone-Rod Dystrophies
Share to Electroretinography

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Pedigree

Share to Phenotype

Share to Retinal Diseases

Share to Retinoschisis

Share to Tomography, Optical Coherence

Source

Open in PubMed Open full text

Identifiers

PMID: 33910785
DOI: 10.1136/bcr-2019-233711
PMCID: PMC8094365

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel clinical presentation of a CRX rod-cone dystrophy.PMID 33910785Read ↗

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

A mutation in CRX causing pigmented paravenous retinochoroidal atrophy.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 ↗

Childhood cone-rod dystrophy with macular cystic degeneration from recessive CRB1 mutation.Semantic proximity Read ↗

Multimodal Imaging in Autosomal Dominant Cone-Rod Dystrophy Caused by Novel CRX Variant.Semantic proximity Read ↗

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

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

Electrophysiologic and phenotypic features of an autosomal cone-rod dystrophy caused by a novel CRX mutation.Semantic proximity Read ↗

Genotype-phenotype correlation in a German family with a novel complex CRX mutation extending the open reading frame.Semantic proximity Read ↗

X linked retinoschisis.Semantic proximity Read ↗

Cone and cone-rod dystrophy segregating in the same pedigree due to the same novel CRX gene mutation.Semantic proximity Read ↗

Association of CRX genotypes and retinal phenotypes confounded by variable expressivity and electronegative electroretinogram.Semantic proximity Read ↗

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