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List of works by Anthony Robson

A Longitudinal Study of Stargardt Disease: Clinical and Electrophysiologic Assessment, Progression, and Genotype Correlations

scientific article published on 15 March 2013

A NOVEL CASE SERIES OF NMNAT1-ASSOCIATED EARLY-ONSET RETINAL DYSTROPHY: EXTENDING THE PHENOTYPIC SPECTRUM

scientific article published on 11 July 2018

A detailed phenotypic assessment of individuals affected by MFRP-related oculopathy.

scientific article

A detailed phenotypic description of autosomal dominant cone dystrophy due to a de novo mutation in the GUCY2D gene

scientific article published on 31 January 2014

A new phenotype of macular dystrophy associated with a mitochondrial A3243G mutation.

scientific article

A novel missense mutation in both OPN1LW and OPN1MW cone opsin genes causes X-linked cone dystrophy (XLCOD5)

scientific article published on 01 January 2012

A phenotype-genotype correlation study of X-linked retinoschisis.

scientific article published on 28 February 2013

A phenotypic study of congenital stationary night blindness (CSNB) associated with mutations in the GRM6 gene

scientific article published on 19 October 2011

ADVIRC is caused by distinct mutations in BEST1 that alter pre-mRNA splicing.

scientific article published on 8 July 2008

An unusual fundus phenotype of inner retinal sheen in X-linked retinoschisis

scientific article published on 05 December 2008

Angioid streaks with severe macular dysfunction and generalised retinal involvement due to a homozygous duplication in the ABCC6 gene.

scientific article published on 20 January 2012

Assessment of patients with suspected non-organic visual loss using pattern appearance visual evoked potentials

scientific article published on 17 November 2006

Author reply

scientific article published on 01 April 2015

Autofluorescence findings in acute exudative polymorphous vitelliform maculopathy

scientific article published on 01 February 2007

Biallelic mutation of BEST1 causes a distinct retinopathy in humans

scientific article

Biallelic mutations in PLA2G5, encoding group V phospholipase A2, cause benign fleck retina

scientific article published on December 2011

Biallelic variants in TTLL5, encoding a tubulin glutamylase, cause retinal dystrophy

scientific journal article

Bietti crystalline retinopathy: report of retinal crystal deposition in male adolescent siblings

scientific article published on 01 November 2012

Bilateral epiretinal membranes in Gorlin syndrome associated with a novel PTCH mutation.

scientific article

Bilateral giant macular schisis in a patient with enhanced S-cone syndrome from a family showing pseudo-dominant inheritance.

scientific article published in February 2008

Characterization of CDH3-Related Congenital Hypotrichosis With Juvenile Macular Dystrophy.

scientific article

Childhood-Onset Autosomal Recessive Bestrophinopathy

scientific article published on 01 August 2011

Clinical and Molecular Characterization of Familial Exudative Vitreoretinopathy Associated With Microcephaly

scientific article published on 08 May 2019

Clinical and molecular analysis of Stargardt disease with preserved foveal structure and function.

scientific article

Clinical and molecular characteristics of childhood-onset Stargardt disease.

scientific article published on 12 October 2014

Clinical and molecular characterization of enhanced S-cone syndrome in children.

scientific article

Clinical characteristics of early retinal disease due to CDHR1 mutation

scientific article

Clinical heterogeneity in a family with mutations in USH2A

scientific article published on 01 March 2015

Comparing rod and cone function with fundus autofluorescence images in retinitis pigmentosa.

scientific article

Comparison of fundus autofluorescence and minimum-motion measurements of macular pigment distribution profiles derived from identical retinal areas.

scientific article published in January 2005

Congenital high myopia and central macular atrophy: a report of 3 families.

scientific article published on 22 May 2015

Congenital stationary night blindness: an analysis and update of genotype-phenotype correlations and pathogenic mechanisms

scientific article

Correction to: ISCEV Standard for clinical electro-oculography (2017 update).

scientific article published on 14 March 2018

Delineating the expanding phenotype associated with SCAPER gene mutation

scientific article published on 13 June 2019

Detailed Clinical Phenotype and Molecular Genetic Findings in CLN3-Associated Isolated Retinal Degeneration

scientific article

Detailed phenotypic and genotypic characterization of bietti crystalline dystrophy.

scientific article published on 28 January 2014

ELECTROPHYSIOLOGICAL CHARACTERIZATION OF MACULAR TELANGIECTASIA TYPE 2 AND STRUCTURE-FUNCTION CORRELATION.

scientific article

Early Onset Retinal Dystrophy Due to Mutations inLRAT: Molecular Analysis and Detailed Phenotypic Study

article

Early Patterns of Macular Degeneration in ABCA4-Associated Retinopathy.

scientific article published on 5 January 2018

Effects of cystic fibrosis lung disease on gas mixing indices derived from alveolar slope analysis

scientific article published on 25 June 2008

Electrodiagnostic and two-wavelength fundus autofluorescence imaging investigations in acute idiopathic maculopathy.

scientific article published on 18 June 2010

Electrodiagnostic assessment in optic nerve disease.

scientific article published on February 2009

Electrooculogram (EOG) findings in a case of acute exudative polymorphous vitelliform maculopathy (AEPVM) detected following trauma

scientific article published on 20 September 2013

Electrophysiological characterisation and monitoring in the management of birdshot chorioretinopathy.

scientific article published on June 2005

Electrophysiological monitoring in a patient with an optic nerve glioma.

scientific article

Electroretinogram measures in a septuagenarian population.

scientific article

Erratum to: ISCEV Standard for clinical electro-oculography (2017 update).

scientific article

Functional characterisation and serial imaging of abnormal fundus autofluorescence in patients with retinitis pigmentosa and normal visual acuity

scientific article published on April 2006

Functional characterization of a novel c.614-622del rhodopsin mutation in a French pedigree with retinitis pigmentosa ⬇️

scientific article published on March 2, 2012

Functional correlates of fundus autofluorescence abnormalities in patients with RPGR or RIMS1 mutations causing cone or cone rod dystrophy.

scientific article published on 25 October 2007

Fundus autofluorescence in patients with leber congenital amaurosis.

scientific article published in August 2004

High-resolution optical coherence tomography imaging in KCNV2 retinopathy.

scientific article published on 10 May 2011

ISCEV Standard for clinical electro-oculography (2017 update).

scientific article published on 21 January 2017

ISCEV extended protocol for the dark-adapted red flash ERG

scientific article published on 22 June 2018

ISCEV extended protocol for the photopic On-Off ERG

scientific article published on 22 June 2018

ISCEV extended protocol for the stimulus-response series for light-adapted full-field ERG

scientific article published on 30 March 2019

ISCEV extended protocol for the stimulus-response series for the dark-adapted full-field ERG b-wave

scientific article published on 30 March 2019

ISCEV guide to visual electrodiagnostic procedures.

scientific article published on 3 February 2018

Inherited Retinal Degeneration: Genetics, Disease Characterization, and Outcome Measures.

scientific article published on 25 September 2017

Investigating the potential of Zernike polynomials to characterise spatial distribution of macular pigment

scientific article published on 24 May 2019

Isolated rod dysfunction associated with a novel genotype of

scientific article published on 19 March 2019

Lack of Interphotoreceptor Retinoid Binding Protein Caused by Homozygous Mutation of RBP3 Is Associated With High Myopia and Retinal Dystrophy.

scientific article published in April 2015

Leber Congenital Amaurosis Associated with Mutations in CEP290, Clinical Phenotype, and Natural History in Preparation for Trials of Novel Therapies

scientific article published on 2 February 2018

Leber congenital amaurosis associated with AIPL1: challenges in ascribing disease causation, clinical findings, and implications for gene therapy.

scientific article

Macular pigment and the colour-specificity of visual evoked potentials.

scientific article published in November 1998

Macular pigment density and distribution: comparison of fundus autofluorescence with minimum motion photometry.

scientific article

Measurement of macular pigment optical density and distribution using the steady-state visual evoked potential.

scientific article published on 11 July 2008

Missense variants in the X-linked gene PRPS1 cause retinal degeneration in females

scientific article published on 2 October 2017

Mizuo-Nakamura phenomenon in Oguchi disease due to a homozygous nonsense mutation in the SAG gene.

scientific article published on 15 April 2011

Molecular and Clinical Findings in Patients With Knobloch Syndrome.

scientific article

Mutations in the gene KCNV2 encoding a voltage-gated potassium channel subunit cause "cone dystrophy with supernormal rod electroretinogram" in humans

scientific article

Nonsense mutation in TMEM126A causing autosomal recessive optic atrophy and auditory neuropathy.

scientific article

Novel phenotypic and genotypic findings in X-linked retinoschisis.

scientific article published on February 2007

Objective specification of tritanopic confusion lines using visual evoked potentials

scientific article published on 01 November 1998

Ocular manifestations of microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) syndrome associated with mutations in KIF11.

scientific article published on 21 May 2015

Optimization of large field tritan stimuli using concentric isoluminant annuli.

scientific article published on 20 November 2012

Outcomes Associated With Sustained-Release Intraocular Fluocinolone Implants in a Case of Melanoma-Associated Retinopathy Treated Without Systemic Immunosuppression

scientific article published on 01 May 2019

PIGMENTED PARAVENOUS CHORIORETINAL ATROPHY-DETAILED CLINICAL STUDY OF A LARGE COHORT.

scientific article

Pathognomonic (diagnostic) ERGs. A review and update.

scientific article published on January 2013

Pattern ERG correlates of abnormal fundus autofluorescence in patients with retinitis pigmentosa and normal visual acuity.

scientific article

Phase 1 clinical study of an embryonic stem cell-derived retinal pigment epithelium patch in age-related macular degeneration.

scientific article published on 19 March 2018

Phenotype and Progression of Retinal Degeneration Associated With Nullizigosity of ABCA4.

scientific article published in September 2016

Phenotypic findings in C1QTNF5 retinopathy (late‐onset retinal degeneration) ⬇️

scientific article published on January 7, 2013

Phenotypic variability in RDH5 retinopathy (Fundus Albipunctatus).

scientific article published on 29 April 2011

Phenotypic variability in patients with retinal dystrophies due to mutations in CRB1.

scientific article published on 17 October 2010

Pointwise linear regression analysis of serial Humphrey visual fields and a correlation with electroretinography in birdshot chorioretinopathy.

scientific article

Preserved visual function in retinal dystrophy due to hypomorphic RPE65 mutations

scientific article

Prph2 mutations as a cause of electronegative ERG

scientific article published on 01 June 2014

Pseudoxanthoma elasticum with generalized retinal dysfunction, a common finding?

scientific article published on 01 September 2007

Recessive mutations of the gene TRPM1 abrogate ON bipolar cell function and cause complete congenital stationary night blindness in humans

scientific article

Reevaluation of the Retinal Dystrophy Due to Recessive Alleles of RGR With the Discovery of a Cis-Acting Mutation in CDHR1.

scientific article published in September 2016

Research news article on frequent cannabis and nerve transmission was unbalanced

scientific article published on 20 January 2017

Retinal Ganglion Cell Dysfunction in Regular Cannabis Users: Is the Evidence Strong Enough to Consider an Association?

scientific article published on 01 January 2017

Retinal dysfunction and refractive errors: an electrophysiological study of children.

scientific article published on April 2005

Retinopathy Associated with Biallelic Mutations in PYGM (McArdle Disease)

scientific article published on 11 October 2018

Rod-cone dystrophy associated with the Gly167Asp variant in PRPH2

scientific article published on 01 April 2019

SSBP1 mutations in dominant optic atrophy with variable retinal degeneration

scientific article published on 31 July 2019

Safety profile and efficacy of tacrolimus in the treatment of birdshot retinochoroiditis: a retrospective case series review.

scientific article published on 19 October 2017

Screening of SPATA7 in patients with Leber congenital amaurosis and severe childhood-onset retinal dystrophy reveals disease-causing mutations.

scientific article

Selective stimulation of colour mechanisms: an empirical perspective

scientific article published on 01 January 1997

Serial imaging and structure-function correlates of high-density rings of fundus autofluorescence in retinitis pigmentosa

scientific article published on 01 September 2011

Specificity and selectivity of chromatic visual evoked potentials

scientific article published on 01 November 1996

Structural and functional retinal changes in eyes with DUSN.

scientific article

The Effect on Retinal Structure and Function of 15 Specific ABCA4 Mutations: A Detailed Examination of 82 Hemizygous Patients.

scientific article published on November 2016

The Macular Assessment Profile test - a new VDU-based technique for measuring the spatial distribution of the macular pigment, lens density and rapid flicker sensitivity.

scientific article published on September 2010

The PROM1 mutation p.R373C causes an autosomal dominant bull's eye maculopathy associated with rod, rod-cone, and macular dystrophy.

scientific article

The clinical effect of homozygous ABCA4 alleles in 18 patients.

scientific article published on 12 June 2013

The value of two-field pattern electroretinogram in routine clinical electrophysiologic practice.

scientific article published in March 2012

Three different cone opsin gene array mutational mechanisms with genotype-phenotype correlation and functional investigation of cone opsin variants

scientific article

Topical corticosteroids potentiate mucin secretion in the normal nose

scientific article published on 01 February 1996

Transplantation of Human Embryonic Stem Cell-Derived Retinal Pigment Epithelial Cells in Macular Degeneration

scientific article published on 05 June 2018

Unilateral BEST1-Associated Retinopathy

scientific article published on 07 June 2016

Unilateral electronegative ERG of non-vascular aetiology.

scientific article published on December 2005

Unilateral pigmentary retinopathy: a retrospective case series

scientific article published on 31 December 2018

Unilateral vitelliform maculopathy: a comprehensive phenotype study with molecular screening of BEST1 and PRPH2.

scientific article published on 15 December 2011

Using laboratory measurements to predict in-flight desaturation in respiratory patients: are current guidelines appropriate?

scientific article published on 9 July 2008

WFS1-Associated Optic Neuropathy: Genotype-Phenotype Correlations and Disease Progression

scientific article published in 2022

X-linked cone dystrophy caused by mutation of the red and green cone opsins

scientific article

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