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

Unique retinal signaling defect in GNB5-related disease.

Documenta ophthalmologica. Advances in ophthalmology - 1 Jun 2020

Shao Zhuo, Tumber Anupreet, Maynes Jason, Tavares Erika, Kannu Peter, Heon Elise, Vincent Ajoy

Abstract excerpt

OBJECTIVE: To report a unique retinal signaling defect in GNB5-related disease. METHODS: A 3-year-old female child underwent detailed systemic and ophthalmological evaluation. The eye examination included fundus photography, spectral domain optical coherence tomography and an extended protocol full-field electroretinography (ERG) including the ISCEV recommended standard steps. The dark-adapted (DA) ERGs were...

Read the complete abstract on PubMed

Topics

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

Share to Dark Adaptation
Share to Electroretinography

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Eye Diseases, Hereditary

Share to GTP-Binding Protein beta Subunits

Share to Photic Stimulation

Share to Retinal Diseases

Share to Tomography, Optical Coherence

Share to Vision, Ocular

Source

Identifiers

PMID: 31720979
DOI: 10.1007/s10633-019-09735-1

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

Unique retinal signaling defect in GNB5-related disease.PMID 31720979Read ↗

Biallelic Mutations in GNB3 Cause a Unique Form of Autosomal-Recessive Congenital Stationary Night Blindness.Semantic proximity Read ↗

Recessive Retinopathy Consequent on Mutant G-Protein β Subunit 3 (GNB3).Semantic proximity Read ↗

Monogenic Retinal Diseases Associated With Genes Encoding Phototransduction Proteins: A ReviewSemantic proximity Read ↗

Rod-cone dystrophy in an adult with GNB1-related disorder: An expansion of the phenotype and natural history.Semantic proximity Read ↗

Expanding the Clinical and Genetic Spectrum of TTLL5-Associated Retinal Dystrophy: A Single-Center Cohort Study.Semantic proximity Read ↗

Electronegative electroretinography in inherited retinal disease: a systematic review of genotype-phenotype correlations.Semantic proximity Read ↗

Genetic Spectrum of Negative Electroretinograms in a Predominantly Pediatric Cohort of 177 Patients.Semantic proximity Read ↗

Retinal findings in a patient of French ancestry with CABP4-related retinal disease.Semantic proximity Read ↗

<i>CNGB3</i>Achromatopsia with Progressive Loss of Residual Cone Function and Impaired Rod-Mediated FunctionSemantic proximity Read ↗

Bi-allelic variants in AP5Z1 and AP5B1 lead to retinal degeneration.Semantic proximity Read ↗

Expanding the phenotype of TTLL5-associated retinal dystrophy: a case series.Semantic proximity Read ↗

KCNV2-Associated Retinopathy: Genetics, Electrophysiology, and Clinical Course-KCNV2 Study Group Report 1.Semantic proximity Read ↗

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