ArticleEuropean journal of human genetics : EJHG2016
Novel genetic causes for cerebral visual impairment.
Article in European journal of human genetics : EJHG, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 92 papers, 1 of them a synthesis that pooled it.
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Who cites it
92 citing papers in PubMed, 1 synthesis or guideline pooled it, 152 citations in OpenAlex.
- High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.American journal of human genetics · 2017Pooled it
- An NR2F1-dependent retinoic acid network controls retinal specialization in mice and reveals foveal hypoplasia in patients with BBSOAS.bioRxiv : the preprint server for biology · 2026Article
- Cortical Visual Impairment Across a Range of Neurodevelopmental Disorders: Clinical Characterization, Diagnostic Tool Evaluation, and Association with Developmental Outcomes.Journal of child neurology · 2026Article
- Persistence of higher visual function deficits in adults with early-onset cerebral visual impairment: A comparative study.PloS one · 2026Article
- Cytosolic Peptide: N-Glycanase (NGLY1)-from Basic Biology to Genetic Disorder, NGLY1 Deficiency.Advances in experimental medicine and biology · 2026Review
- Autism Spectrum Disorder and Atypical Epilepsy Presentation in KCNQ3 Mutations: Expansion of Phenotypic Spectrum With Neuroimaging Findings.Case reports in pediatrics · 2026Article
- Molecular features of AHDC1: insights into an overlooked gene with broad functional potential.Human genetics · 2025Review
- NGLY1 deficiency - clinical features and therapeutic strategy.Journal of human genetics · 2025Review
- The many connections of UFMylation with Alzheimer's disease: a comprehensive review.Molecular neurodegeneration · 2025Review
- "My child can't see"-workup and management of children with low vision: a joint workshop of the AAPOS Low Vision Rehabilitation and Genetic Eye Diseases Committees.Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus · 2025Review
- Article
- A school-based intervention to improve mental health outcomes for children with cerebral visual impairment (CVI): feasibility cluster randomised trial.Pilot and feasibility studies · 2025Article
- Adaptive functioning and relationship to visual behavior in children with cerebral/cortical visual impairment.Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus · 2025Article
- NGLY1-CDDG: report of two cases from India and brief review of literature.Journal of genetics · 2025Review
- Article
- Expanding the Spectrum of Autosomal DominantGenes · 2024Review
- De novo variants in GABRA4 are associated with a neurological phenotype including developmental delay, behavioral abnormalities and epilepsy.European journal of human genetics : EJHG · 2024Article
- Cerebral visual impairment: genetic diagnoses and phenotypic associations.Journal of medical genetics · 2024Article
- Functional prediction of the potential NGLY1 mutations associated with rare disease CDG.Heliyon · 2024Article
- KCTD10 regulates brain development by destabilizing brain disorder-associated protein KCTD13.Proceedings of the National Academy of Sciences of the United States of America · 2024Article
32 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
11 authors at 2 institutions in 2 countries.
Funding
Abstract
Cerebral visual impairment (CVI) is a major cause of low vision in children due to impairment in projection and/or interpretation of the visual input in the brain. Although acquired causes for CVI are well known, genetic causes underlying CVI are largely unidentified. DNAs of 25 patients with CVI and intellectual disability, but without acquired (eg, perinatal) damage, were investigated by whole-exome sequencing. The data were analyzed for de novo, autosomal-recessive, and X-linked variants, and subsequently classified into known, candidate, or unlikely to be associated with CVI. This classification was based on the Online Mendelian Inheritance in Man database, literature reports, variant characteristics, and functional relevance of the gene. After classification, variants in four genes known to be associated with CVI (AHDC1, NGLY1, NR2F1, PGAP1) in 5 patients (20%) were identified, establishing a conclusive genetic diagnosis for CVI. In addition, in 11 patients (44%) with CVI, variants in one or more candidate genes were identified (ACP6, AMOT, ARHGEF10L, ATP6V1A, DCAF6, DLG4, GABRB2, GRIN1, GRIN2B, KCNQ3, KCTD19, RERE, SLC1A1, SLC25A16, SLC35A2, SOX5, UFSP2, UHMK1, ZFP30). Our findings show that diverse genetic causes underlie CVI, some of which will provide insight into the biology underlying this disease process.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.