Anthony G. Robson
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View article: ISCEV standard for clinical visual evoked potentials (2025 update)
ISCEV standard for clinical visual evoked potentials (2025 update) Open
Visual evoked potentials (VEPs) are electrophysiologic responses to pattern or flash stimuli, recorded over the occiput. VEPs can provide information regarding the function of the visual system and are valuable in the diagnosis and investi…
View article: SNRNP200- Associated Retinopathy: In-Depth Clinical Phenotyping and Genetic Characterization
SNRNP200- Associated Retinopathy: In-Depth Clinical Phenotyping and Genetic Characterization Open
This report represents the largest cohort of patients with SNRNP200-associated retinopathy, with the longest follow-up. Longitudinal analysis shows a preserved central retina until the 6th decade of life. These findings provide critical in…
View article: <i>RHO</i>-Associated Retinitis Pigmentosa: Genetics, Phenotype, Natural History, Functional Assays, and Animal Model – In Preparation for Clinical Trials
<i>RHO</i>-Associated Retinitis Pigmentosa: Genetics, Phenotype, Natural History, Functional Assays, and Animal Model – In Preparation for Clinical Trials Open
RHO-associated RP encompasses a wide phenotypic spectrum with distinct genetic subtypes influencing disease severity and progression. These findings provide critical insights for patient counseling, identifying clinical endpoints, particip…
View article: A Phenotypic Study of <i>CRB1</i> Retinopathy Secondary to the Variant p.(Pro836Thr) Prevalent in Those of Black African Ancestry
A Phenotypic Study of <i>CRB1</i> Retinopathy Secondary to the Variant p.(Pro836Thr) Prevalent in Those of Black African Ancestry Open
The study highlights the association of the p.(Pro836Thr) variant with African ancestry and characterizes their key clinical and electrophysiological features. Our study suggests that the p.(Pro836Thr) variant confers a less severe consequ…
View article: Clinical and Biochemical Characterization of Specific <i>GUCY2D</i> Alleles Associated With a Rare Form of Night Blindness
Clinical and Biochemical Characterization of Specific <i>GUCY2D</i> Alleles Associated With a Rare Form of Night Blindness Open
The apparent lack of retinal degeneration, clinical features, predominant and severe rod photoreceptor involvement, and relatively high degree of ERG stability are similar to rare forms of SNB. Biallelic disease-causing variants in GUCY2D …
View article: Biallelic <i>NSUN3</i> Variants Cause Diverse Phenotypic Spectrum Disease: From Isolated Optic Atrophy to Severe Early-Onset Mitochondrial Disorder
Biallelic <i>NSUN3</i> Variants Cause Diverse Phenotypic Spectrum Disease: From Isolated Optic Atrophy to Severe Early-Onset Mitochondrial Disorder Open
Pathogenic or likely pathogenic biallelic variants in NSUN3 disrupt mt-tRNAMet methylation and mitochondrial translation leading to mitochondrial disease ranging from mild isolated optic atrophy to a severe multisystemic phenotype with pos…
View article: Detailed Clinical, Ophthalmic, and Genetic Characterization of <i>MYO7A</i>-Associated Usher Syndrome
Detailed Clinical, Ophthalmic, and Genetic Characterization of <i>MYO7A</i>-Associated Usher Syndrome Open
Longitudinal analysis shows that the majority of patients retain central visual function and structure until the fifth decade of life, which informs advice on prognosis and the window for therapeutic intervention.
View article: ISCEV standard full-field ERG reference limits from 407 healthy subjects, derived from transference and validation of reference data between electrode types and centres
ISCEV standard full-field ERG reference limits from 407 healthy subjects, derived from transference and validation of reference data between electrode types and centres Open
View article: Clinical, Genetic, Imaging and Electrophysiological Findings in a Cohort of Patients With <i>GUCA1A</i>-Associated Retinopathy
Clinical, Genetic, Imaging and Electrophysiological Findings in a Cohort of Patients With <i>GUCA1A</i>-Associated Retinopathy Open
We present genotypic and phenotypic findings from the largest cohort with GUCA1A retinopathy. Most had progressive visual loss and electrophysiologic evidence of cone dystrophy. Possible genotype-phenotype correlations emerged, but subgrou…
View article: Electrodiagnostic Tests as Potential Efficacy Endpoints in Clinical Trials of Novel Pharmacological Therapies for Acquired Retinal Disorders
Electrodiagnostic Tests as Potential Efficacy Endpoints in Clinical Trials of Novel Pharmacological Therapies for Acquired Retinal Disorders Open
Background: Electrodiagnostic tests (EDTs) provide non-invasive, objective, and measurable indications of retinal and visual pathway function. These hold the promise of evaluating drug efficacy and disease progression over shorter periods …
View article: Bifocal retinal degeneration observed on ultra-widefield autofluorescence in some cases of CRX-associated retinopathy
Bifocal retinal degeneration observed on ultra-widefield autofluorescence in some cases of CRX-associated retinopathy Open
View article: The Electroretinogram I-Wave, a Component Originating in the Retinal OFF-Pathway, Associates With a Myopia Genetic Risk Polymorphism
The Electroretinogram I-Wave, a Component Originating in the Retinal OFF-Pathway, Associates With a Myopia Genetic Risk Polymorphism Open
Patient ERGs were consistent with the i-wave arising from cone-driven OFF pathways. Amplitudes associated significantly with allelic dosage at the myopia risk locus, supporting the importance of cone-driven signaling in myopia development …
View article: <i>CDH23</i>-Associated Usher Syndrome: Clinical Features, Retinal Imaging, and Natural History
<i>CDH23</i>-Associated Usher Syndrome: Clinical Features, Retinal Imaging, and Natural History Open
Despite the early onset of symptoms, USH1D has a slowly progressive phenotype. There is high interocular symmetry across all parameters, making it an attractive target for novel therapies.
View article: Electrodiagnostic tests of the visual pathway and applications in neuro-ophthalmology
Electrodiagnostic tests of the visual pathway and applications in neuro-ophthalmology Open
This article describes the main visual electrodiagnostic tests relevant to neuro-ophthalmology practice, including the visual evoked potential (VEP), and the full-field, pattern and multifocal electroretinograms (ffERG; PERG; mfERG). The p…
View article: Non‐syndromic retinal dystrophy associated with biallelic variation of <scp> <i>SUMF1</i> </scp> and reduced leukocyte sulfatase activity
Non‐syndromic retinal dystrophy associated with biallelic variation of <span> <i>SUMF1</i> </span> and reduced leukocyte sulfatase activity Open
Biallelic variants in SUMF1 are associated with multiple sulfatase deficiency (MSD), a rare lysosomal storage disorder typically diagnosed in early infancy or childhood, marked by severe neurodegeneration and early mortality. We present cl…
View article: IQCB1 (NPHP5)-Retinopathy: Clinical and Genetic Characterization and Natural History
IQCB1 (NPHP5)-Retinopathy: Clinical and Genetic Characterization and Natural History Open
IQCB1-retinopathy is a severe early-onset cone-rod dystrophy. The dissociation between severely decreased retinal function and relative preservation of retinal structure over a wide age window makes the disease a candidate for gene therapy.
View article: ISCEV standard for clinical pattern electroretinography (2024 update)
ISCEV standard for clinical pattern electroretinography (2024 update) Open
The pattern electroretinogram (PERG) is a localized retinal response evoked by a contrast-reversing pattern, usually a black and white checkerboard, which provides information about macular and retinal ganglion cell function. This document…
View article: Distinct Clinical Effects of Two RP1L1 Hotspots in East Asian Patients With Occult Macular Dystrophy (Miyake Disease): EAOMD Report 4
Distinct Clinical Effects of Two RP1L1 Hotspots in East Asian Patients With Occult Macular Dystrophy (Miyake Disease): EAOMD Report 4 Open
Distinct clinical severities and morphologic phenotypes supported by artificial intelligence-based classification were derived from the two investigated RP1L1 hotspots: a more severe phenotype (p.R45W) and a milder phenotype (1196-1201 aa)…
View article: ISCEV and IPS guideline for the full-field stimulus test (FST)
ISCEV and IPS guideline for the full-field stimulus test (FST) Open
View article: RP2-Associated X-linked Retinopathy: Clinical Findings, Molecular Genetics, and Natural History in a Large Cohort of Female Carriers
RP2-Associated X-linked Retinopathy: Clinical Findings, Molecular Genetics, and Natural History in a Large Cohort of Female Carriers Open
Most carriers were asymptomatic, exhibiting subclinical characteristics such as TLR and pigmentary changes. However, female carriers of RP2 variants can manifest RP. Family history of affected females with RP does not exclude X-linked dise…
View article: The diagnostic accuracy of photopic negative responses evoked by broadband and chromatic stimuli in a clinically heterogeneous population
The diagnostic accuracy of photopic negative responses evoked by broadband and chromatic stimuli in a clinically heterogeneous population Open
View article: <i>KCNV2</i>-associated retinopathy: genotype–phenotype correlations –<i>KCNV2</i>study group report 3
<i>KCNV2</i>-associated retinopathy: genotype–phenotype correlations –<i>KCNV2</i>study group report 3 Open
Background/aims To investigate genotype–phenotype associations in patients with KCNV2 retinopathy. Methods Review of clinical notes, best-corrected visual acuity (BCVA), molecular variants, electroretinography (ERG) and retinal imaging. Su…
View article: RBP3-Retinopathy—Inherited High Myopia and Retinal Dystrophy: Genetic Characterization, Natural History, and Deep Phenotyping
RBP3-Retinopathy—Inherited High Myopia and Retinal Dystrophy: Genetic Characterization, Natural History, and Deep Phenotyping Open
View article: CERKL-Associated Retinal Dystrophy
CERKL-Associated Retinal Dystrophy Open
PURPOSE: To analyze the clinical characteristics, natural history, and genetics of CERKL-associated retinal dystrophy in the largest series to date. DESIGN: Multicenter retrospective cohort study. SUBJECTS: Forty-seven patients (37 familie…
View article: ISCEV guidelines for calibration and verification of stimuli and recording instruments (2023 update)
ISCEV guidelines for calibration and verification of stimuli and recording instruments (2023 update) Open
This document developed by the International Society for Clinical Electrophysiology of Vision (ISCEV) provides guidance for calibration and verification of stimulus and recording systems specific to clinical electrophysiology of vision. Th…
View article: First-in-Human Gene Therapy Trial of AAV8-hCARp.hCNGB3 in Adults and Children With CNGB3-associated Achromatopsia
First-in-Human Gene Therapy Trial of AAV8-hCARp.hCNGB3 in Adults and Children With CNGB3-associated Achromatopsia Open
AAV8-hCARp.hCNGB3 for CNGB3-associated ACHM demonstrated an acceptable safety and tolerability profile. Improvements in several efficacy parameters indicate that AAV8-hCARp.hCNGB3 gene therapy may provide benefit. These findings, with the …
View article: Supplementary Figure 1 from Biological properties of potent inhibitors of class I phosphatidylinositide 3-kinases: from PI-103 through PI-540, PI-620 to the oral agent GDC-0941
Supplementary Figure 1 from Biological properties of potent inhibitors of class I phosphatidylinositide 3-kinases: from PI-103 through PI-540, PI-620 to the oral agent GDC-0941 Open
Supplementary Figure 1 from Biological properties of potent inhibitors of class I phosphatidylinositide 3-kinases: from PI-103 through PI-540, PI-620 to the oral agent GDC-0941
View article: Supplementary Figure 3A from Biological properties of potent inhibitors of class I phosphatidylinositide 3-kinases: from PI-103 through PI-540, PI-620 to the oral agent GDC-0941
Supplementary Figure 3A from Biological properties of potent inhibitors of class I phosphatidylinositide 3-kinases: from PI-103 through PI-540, PI-620 to the oral agent GDC-0941 Open
Supplementary Figure 3A from Biological properties of potent inhibitors of class I phosphatidylinositide 3-kinases: from PI-103 through PI-540, PI-620 to the oral agent GDC-0941
View article: Supplementary Figure 2 from Biological properties of potent inhibitors of class I phosphatidylinositide 3-kinases: from PI-103 through PI-540, PI-620 to the oral agent GDC-0941
Supplementary Figure 2 from Biological properties of potent inhibitors of class I phosphatidylinositide 3-kinases: from PI-103 through PI-540, PI-620 to the oral agent GDC-0941 Open
Supplementary Figure 2 from Biological properties of potent inhibitors of class I phosphatidylinositide 3-kinases: from PI-103 through PI-540, PI-620 to the oral agent GDC-0941
View article: Supplementary Figure 3B from Biological properties of potent inhibitors of class I phosphatidylinositide 3-kinases: from PI-103 through PI-540, PI-620 to the oral agent GDC-0941
Supplementary Figure 3B from Biological properties of potent inhibitors of class I phosphatidylinositide 3-kinases: from PI-103 through PI-540, PI-620 to the oral agent GDC-0941 Open
Supplementary Figure 3B from Biological properties of potent inhibitors of class I phosphatidylinositide 3-kinases: from PI-103 through PI-540, PI-620 to the oral agent GDC-0941