ArticleDocumenta ophthalmologica. Advances in ophthalmology2020
Unique retinal signaling defect in GNB5-related disease.
Article in Documenta ophthalmologica. Advances in ophthalmology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed.
- Single-Cell Transcriptomics onBiomedicines · 2025Article
- Genetic Spectrum of Negative Electroretinograms in a Predominantly Pediatric Cohort of 177 Patients.Investigative ophthalmology & visual science · 2025Article
- Mixed Segmental Uniparental Disomy of Chromosome 15q11-q1 Coexists with Homozygous Variant inGenes · 2025Article
- Disease-causing mutations in the G protein β5 β-propeller disrupt its chaperonin-mediated folding trajectory.bioRxiv : the preprint server for biology · 2025Article
- Monogenic Retinal Diseases Associated With Genes Encoding Phototransduction Proteins: A Review.Clinical & experimental ophthalmology · 2025Review
- Inhibition of G-protein signalling in cardiac dysfunction of intellectual developmental disorder with cardiac arrhythmia (IDDCA) syndrome.Journal of medical genetics · 2021Article
- Negative electroretinograms: genetic and acquired causes, diagnostic approaches and physiological insights.Eye (London, England) · 2021Review
- Article
- IDDCA syndrome in a Chinese infant due to GNB5 biallelic mutations.Journal of human genetics · 2020Article
- Genetic characterization and long-term management of severely affected siblings with intellectual developmental disorder with cardiac arrhythmia syndrome.Molecular genetics and metabolism reports · 2020Article
- Severe Phenotype in a Patient With Homozygous 15q21.2 Microdeletion InvolvingFrontiers in genetics · 2020Article
- Review
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Authors and funding
7 authors.
Funding
Abstract
objectiveTo report a unique retinal signaling defect in GNB5-related disease.
methodsA 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 performed to a series of white flashes (range 0.006-30.0 cd s m
resultsThe child was diagnosed to have status epilepticus and bradycardia at 6 months of age. Subsequently, she was diagnosed to have global developmental delay and hypotonia. On ophthalmological evaluation, the child fixes and follows light. Fundus evaluation showed mild optic disk pallor; macular SD-OCT was normal. The dim flash DA ERGs (DA 0.006 and DA 0.01 cd s m
conclusionThis report identifies for the first time a unique retinopathy associated with biallelic mutations in GNB5. The observed phenotype is consistent with a dual retinal signaling defect reminiscent of features of bradyopsia and rod ON-bipolar dysfunction.
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