ArticleThe Journal of clinical investigation2007
Visual phenotype in Williams-Beuren syndrome challenges magnocellular theories explaining human neurodevelopmental visual cortical disorders.
Article in The Journal of clinical investigation, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT01954953 (European Research Projects on Rare Diseases Driven by Young Investigators), which is not on this map. Cited by 15 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
European Research Projects on Rare Diseases Driven by Young Investigators
Who cites it
15 citing papers in PubMed, 45 citations in OpenAlex.
- Optical coherence tomography angiography findings in Williams-Beuren syndrome.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2024Article
- The role of syntaxins in retinal function and health.Frontiers in cellular neuroscience · 2024Review
- Novel ophthalmic findings and deep phenotyping in Williams-Beuren syndrome.The British journal of ophthalmology · 2023Article
- Ophthalmic characteristics and retinal vasculature changes in Williams syndrome, and its association with systemic diseases.Eye (London, England) · 2023Article
- Objective differential diagnosis of Noonan and Williams-Beuren syndromes in diverse populations using quantitative facial phenotyping.Molecular genetics & genomic medicine · 2021Article
- Facial emotion processing in patients with social anxiety disorder and Williams-Beuren syndrome: an fMRI study.Journal of psychiatry & neuroscience : JPN · 2016Article
- Lateral preference in Williams-Beuren syndrome is associated with cognition and language.European child & adolescent psychiatry · 2015Article
- Williams syndrome and its cognitive profile: the importance of eye movements.Psychology research and behavior management · 2015Review
- Genetic contributions to visuospatial cognition in Williams syndrome: insights from two contrasting partial deletion patients.Journal of neurodevelopmental disorders · 2014Article
- Effects of proinflammatory cytokines on the claudin-19 rich tight junctions of human retinal pigment epithelium.Investigative ophthalmology & visual science · 2012Article
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- Unusual retinal layer organization in HPC-1/syntaxin 1A knockout mice.Journal of molecular histology · 2011Article
- Motion-onset visual evoked potentials predict performance during a global direction discrimination task.Neuropsychologia · 2010Article
- Transcriptome profile in Williams-Beuren syndrome lymphoblast cells reveals gene pathways implicated in glucose intolerance and visuospatial construction deficits.Human genetics · 2010Article
- Retinotopically defined primary visual cortex in Williams syndrome.Brain : a journal of neurology · 2009Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Williams-Beuren syndrome (WBS), a neurodevelopmental genetic disorder whose manifestations include visuospatial impairment, provides a unique model to link genetically determined loss of neural cell populations at different levels of the nervous system with neural circuits and visual behavior. Given that several of the genes deleted in WBS are also involved in eye development and the differentiation of retinal layers, we examined the retinal phenotype in WBS patients and its functional relation to global motion perception. We discovered a low-level visual phenotype characterized by decreased retinal thickness, abnormal optic disk concavity, and impaired visual responses in WBS patients compared with age-matched controls by using electrophysiology, confocal and coherence in vivo imaging with cellular resolution, and psychophysics. These mechanisms of impairment are related to the magnocellular pathway, which is involved in the detection of temporal changes in the visual scene. Low-level magnocellular performance did not predict high-level deficits in the integration of motion and 3D information at higher levels, thereby demonstrating independent mechanisms of dysfunction in WBS that will require remediation strategies different from those used in other visuospatial disorders. These findings challenge neurodevelopmental theories that explain cortical deficits based on low-level magnocellular impairment, such as regarding dyslexia.
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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.