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

Identification of a novel mutation in the CDHR1 gene in a family with recessive retinal degeneration.

Archives of ophthalmology (Chicago, Ill. : 1960) - 1 Oct 2012

Duncan Jacque L, Roorda Austin, Navani Mili, Vishweswaraiah Sangeetha, Syed Reema, Soudry Shiri, Ratnam Kavitha, Gudiseva Harini V, Lee Pauline, Gaasterland Terry, Ayyagari Radha

Abstract excerpt

OBJECTIVES: To describe the clinical phenotype and identify the molecular basis of disease in a consanguineous family of Palestinian origin with autosomal recessive retinal degeneration. METHODS: Eight family members were evaluated with visual acuity and perimetry tests, color fundus photographs, full-field electroretinography, and optical coherence tomography. Cone photoreceptors surrounding the fovea were...

Read the complete abstract on PubMed

Topics

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

Share to Cadherin Related Proteins
Share to Color Vision

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Ophthalmoscopy

Share to Photoreceptor Cells, Vertebrate

Share to Refraction, Ocular

Share to Retinal Degeneration

Share to Tomography, Optical Coherence

Share to Visual Fields

Source

Open in PubMed Open full text

Identifiers

PMID: 23044944
DOI: 10.1001/archophthalmol.2012.1906
PMCID: PMC3799916

Genes

CDHR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Identification of a novel mutation in the CDHR1 gene in a family with recessive retinal degeneration.PMID 23044944Read ↗

Identification of two novel mutations in CDHR1 in consanguineous Spanish families with autosomal recessive retinal dystrophy.Semantic proximity Read ↗

CDHR1-Associated Retinal Dystrophies: Expanding the Clinical and Genetic Spectrum with a Hungarian Cohort.Semantic proximity Read ↗

CDHR1 mutations in retinal dystrophies.Semantic proximity Read ↗

Clinical characteristics of early retinal disease due to CDHR1 mutation.Semantic proximity Read ↗

Ocular Phenotype of a Family with FAM161A-associated Retinal Degeneration.Semantic proximity Read ↗

Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes.Semantic proximity Read ↗

Expanding the phenotypic spectrum in RDH12-associated retinal disease.Semantic proximity Read ↗

Identity-by-descent-guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophy.Semantic proximity Read ↗

A Specific Macula-Predominant Retinal Phenotype Is Associated With the CDHR1 Variant c.783G>A, a Silent Mutation Leading to In-Frame Exon SkippingSemantic proximity Read ↗

Genome sequencing identifies a non-coding variant in the MCDR1 locus as a cause of macular dystrophy.Semantic proximity Read ↗

Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy.Semantic proximity Read ↗

Clinical Phenotypes of CDHR1-Associated Retinal Dystrophies.Semantic proximity Read ↗

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