Novel recessive cone-rod dystrophy caused by POC1B mutation.

doi:10.1001/jamaophthalmol.2014.1658

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

Back to search

Article

Novel recessive cone-rod dystrophy caused by POC1B mutation.

JAMA ophthalmology - 1 Oct 2014

Durlu Yusuf K, Köroğlu Çiğdem, Tolun Aslihan

Abstract excerpt

IMPORTANCE: A new form of cone-rod dystrophy (CORD) is described and the gene responsible for the disease is identified. OBJECTIVE: To clinically evaluate 4 patients and 5 control relatives, perform disease gene mapping, and identify the gene defect responsible for CORD. DESIGN, SETTING, AND PARTICIPANTS: Prospective observational case series of 13 members of a consanguineous family and 113 unrelated control...

Topics

Adolescent
Adult
Cell Cycle Proteins
Chromosome Mapping
Chromosomes, Human, Pair 12
Consanguinity
DNA Mutational Analysis
Electroretinography
Female
Genes, Recessive
Humans
Male

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Middle Aged

Mutation, Missense

Pedigree

Phenotype

Retinitis Pigmentosa

Tomography, Optical Coherence

Source

Open in PubMed

Identifiers

PMID: 24945461
DOI: 10.1001/jamaophthalmol.2014.1658

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel recessive cone-rod dystrophy caused by POC1B mutation.PMID 24945461Read ↗

Clinical characteristics, imaging findings, and genetic results of a patient with CEP290-related cone-rod dystrophy.Semantic proximity Read ↗

Novel compound heterozygous mutation in the POC1B gene underlie peripheral cone dystrophy in a Chinese family.Semantic proximity Read ↗

Phenotypic and genotypic features of POC1B-associated cone dystrophy.Semantic proximity Read ↗

A homozygous POC1B variant causes recessive cone-rod dystrophy.Semantic proximity Read ↗

Molecular genetics of cone-rod dystrophy in Chinese patients: New data from 61 probands and mutation overview of 163 probands.Semantic proximity Read ↗

Exome sequencing of 47 chinese families with cone-rod dystrophy: mutations in 25 known causative genes.Semantic proximity Read ↗

Clinical and Molecular Characterization of PROM1 -Related Retinal DegenerationSemantic proximity Read ↗

Homozygous frameshift variant in POC1B causes male infertility with oligoasthenoteratozoospermia in human and mice.Semantic proximity Read ↗

Case of cone dystrophy with normal fundus appearance associated with biallelic POC1B variants.Semantic proximity Read ↗

Childhood-onset genetic cone-rod photoreceptor diseases and underlying pathobiology.Semantic proximity Read ↗

A detailed study of the phenotype of an autosomal dominant cone-rod dystrophy (CORD7) associated with mutation in the gene for RIM1.Semantic proximity Read ↗

Molecular Mechanisms Governing Sight Loss in Inherited Cone DisordersSemantic proximity Read ↗

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