ArticleEuropean journal of human genetics : EJHG2016
Ocular and neurodevelopmental features of Duchenne muscular dystrophy: a signature of dystrophin function in the central nervous system.
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 27 papers, 1 of them a synthesis that pooled it.
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Who cites it
27 citing papers in PubMed, 1 synthesis or guideline pooled it, 52 citations in OpenAlex.
- Tissue- and cell-specific whole-transcriptome meta-analysis from brain and retina reveals differential expression of dystrophin complexes and new dystrophin spliced isoforms.Human molecular genetics · 2023Pooled it
- Navigating sexual health, fertility, and adult wellness in individuals with Duchenne muscular dystrophy: Current standards of care and future directions.Journal of neuromuscular diseases · 2026Review
- The Multi-System Roles of Dp71 Dystrophin Isoforms in Duchenne Muscular Dystrophy.Muscles (Basel, Switzerland) · 2026Review
- Dystrophin-gene mutation location influences severity of electroretinogram defects in mouse models of Duchenne muscular dystrophy.BMC medicine · 2026Article
- Optical coherence tomography findings in Duchenne muscular dystrophy.BMC ophthalmology · 2026Article
- Brain Alteration Patterns in Children with Duchenne Muscular Dystrophy: A Machine Learning Approach to Magnetic Resonance Imaging.Journal of neuromuscular diseases · 2026Article
- Correction to: Brain dystrophinopathies and cognitive impairment: Pathogenesis, diagnosis, and therapies.Journal of biosciences · 2025Article
- Identifying X-chromosome variants associated with age-related macular degeneration.Human molecular genetics · 2024Article
- Expression of Dystrophin Dp71 Splice Variants Is Temporally Regulated During Rodent Brain Development.Molecular neurobiology · 2024Article
- Neurexin facilitates glycosylation of Dystroglycan to sustain muscle architecture and function in Drosophila.Communications biology · 2024Article
- The hidden face of Duchenne (Neuro)Muscular Dystrophy. Preliminary evidence of social cognition impairment as a feature of the neuropsychological phenotype of DMD.Frontiers in psychology · 2024Article
- Electroretinogram abnormalities in FKRP-related limb-girdle muscular dystrophy (LGMDR9).Documenta ophthalmologica. Advances in ophthalmology · 2023Article
- Resting-state functional MRI shows altered default-mode network functional connectivity in Duchenne muscular dystrophy patients.Brain imaging and behavior · 2021Article
- Negative electroretinograms: genetic and acquired causes, diagnostic approaches and physiological insights.Eye (London, England) · 2021Review
- Correlations Between Dark-Adapted Rod Threshold Elevations and ERG Response Deficits in Duchenne Muscular Dystrophy.Investigative ophthalmology & visual science · 2021Article
- Defects of full-length dystrophin trigger retinal neuron damage and synapse alterations by disrupting functional autophagy.Cellular and molecular life sciences : CMLS · 2021Article
- Intronic Alternative Polyadenylation in the Middle of theInternational journal of molecular sciences · 2020Article
- Rescue of Defective Electroretinographic Responses in Dp71-Null Mice With AAV-Mediated Reexpression of Dp71.Investigative ophthalmology & visual science · 2020Article
- Dystrophin Is Required for the Proper Timing in Retinal Histogenesis: A Thorough Investigation on theFrontiers in neuroscience · 2020Article
- Expression profile analysis to predict potential biomarkers for glaucoma: BMP1, DMD and GEM.PeerJ · 2020Article
Corrections and comments
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Multiple isoforms of dystrophin (Dp427, Dp260, Dp140, Dp71) are expressed differentially in the central nervous system (CNS) including the retinal layers. Disruption of these protein products is responsible for cognitive dysfunction, electroretinogram (ERG) abnormalities and behavioural disorders in Duchenne muscular dystrophy (DMD). We studied the ocular characteristics and neuropsychiatric profile of 16 DMD boys. The ISCEV standard, full-field flash ERGs were assessed. Intellectual ability and behavioural disturbances were measured. All genotypes were associated with mildly abnormal photopic ERG a:b-wave amplitude ratios. In addition, we identified the following genotype/phenotype correlations: boys with mutations upstream of exon 30 (ie, isolated Dp427 altered expression) showed normal scotopic a:b ratios, abnormal photopic oscillatory potential OP2 and normal scotopic OP2. Conversely, all boys with DMD mutations downstream of exon 30 showed profoundly 'negative' scotopic ERGs (a:b ratios >1). In these patients, the involvement of Dp260 isoform resulted in the absence of slow rod pathway signalling in15 Hz scotopic flicker ERGs. These boys had abnormal scotopic OP2 and normal photopic OP2. Finally, children with mutations also affecting Dp71 were associated with more pronounced electronegative ERGs. When correlating ERGs to neurodevelopmental outcome, we found a positive correlation between negative scotopic ERGs and neurodevelopmental disturbances, and the most severe findings were in boys with Dp71 disruption. These findings suggest a strong association between DMD mutations affecting different DMD isoforms with characteristically abnormal scotopic ERGs and severe neurodevelopmental problems. The role of the ERG as a potential biomarker for dystrophin function in the CNS and response to novel genetic therapies warrants further exploration.
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