A. Robson

发表

Deep Phenotyping of PDE6C-Associated Achromatopsia

A. Dubra, C. Ripamonti, Nikolas Pontikos, 2019, Investigative ophthalmology & visual science.

KCNV2-Associated Retinopathy: Detailed Retinal Phenotype and Structural Endpoints—KCNV2 Study Group Report 2

E. Zrenner, D. Sharon, K. Tsunoda, 2021, American journal of ophthalmology.

A genetic and clinical study of individuals with nonsyndromic retinopathy consequent upon sequence variants in HGSNAT, the gene associated with Sanfilippo C mucopolysaccharidosis

W. Zein, O. Mahroo, G. Arno, 2020, American journal of medical genetics. Part C, Seminars in medical genetics.

Photoreceptor Structure in GNAT2-Associated Achromatopsia

A. Dubra, M. Michaelides, A. Webster, 2020, Investigative ophthalmology & visual science.

Phenotypic variation in enhanced S-cone syndrome.

D. Hunt, A. Bird, G. Holder, 2008, Investigative ophthalmology & visual science.

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

G. Holder, A. Webster, A. Moore, 2013, Ophthalmology.

Three Different Cone Opsin Gene Array Mutational Mechanisms with Genotype–Phenotype Correlation and Functional Investigation of Cone Opsin Variants

G. Holder, G. Liew, M. Michaelides, 2014, Human mutation.

OP-BRCM210164 1..21

R. Bowman, G. Holder, M. Caleo, 2021 .

The pattern of retinal ganglion cell dysfunction in Leber hereditary optic neuropathy

A. Stockman, M. Votruba, P. Chinnery, 2017, Mitochondrion.

Specificity and Selectivity of Chromatic Visual Evoked Potentials

J. Kulikowski, D. McKeefry, A. Robson, 1996, Vision Research.

Human visual-evoked potentials reflect isolation of the blue- cone pathway

J. Kulikowski, A. Robson, 1997 .

Selective stimulation of colour mechanisms: an empirical perspective.

J. Kulikowski, D. McKeefry, A. Robson, 1997, Spatial vision.

Spatial Functional Characteristics of East Asian Patients with Occult Macular Dystrophy (Miyake disease); EAOMD Report No.2.

K. Tsubota, K. Tsunoda, Nikolas Pontikos, 2020, American journal of ophthalmology.

Financial Support: Supported by grants from the National Institute for Health Research Biomedical Research Centre at Moorfields Eye Hospital NHS Foundation Trust and UCL Institute of Ophthalmology, Fight for Sight, Moorfields Eye Hospital Special Trustees, Moorfields Eye Charity, Retinitis Pigmentos

A. Robson, Neruban Kumaran FRCOphth, Michel Michaelides FRCOphth, 2018 .

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

M. Michaelides, A. Robson, N. Kumaran, 2018, Retinal cases & brief reports.

Congenital stationary night blindness: An analysis and update of genotype–phenotype correlations and pathogenic mechanisms

Anthony G. Robson, Christina Zeitz, I. Audo, 2015, Progress in Retinal and Eye Research.

Pattern ERG: clinical overview, and some observations on associated fundus autofluorescence imaging in inherited maculopathy

A. Bird, N. Lois, A. Robson, 2004, Documenta Ophthalmologica.

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

E. Claridge, A. Robson, A. Calcagnì, 2019, PloS one.

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

Dorothy A. Thompson, P. Sergouniotis, A. Webster, 2011, Investigative ophthalmology & visual science.

Functional characteristics of patients with retinal dystrophy that manifest abnormal parafoveal annuli of high density fundus autofluorescence; a review and update

A. Bird, G. Holder, F. Fitzke, 2007, Documenta Ophthalmologica.

Comparison of fundus autofluorescence with photopic and scotopic fine matrix mapping in patients with retinitis pigmentosa: 4- to 8-year follow-up.

G. Holder, F. Fitzke, E. Lenassi, 2012, Investigative ophthalmology & visual science.

SERIAL IMAGING AND STRUCTURE-FUNCTION CORRELATES OF HIGH-DENSITY RINGS OF FUNDUS AUTOFLUORESCENCE IN RETINITIS PIGMENTOSA

A. Bird, G. Holder, F. Fitzke, 2011, Retina.

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

A. Bird, G. Holder, F. Fitzke, 2003, Investigative ophthalmology & visual science.

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

A. Bird, G. Holder, F. Fitzke, 2003, Advances in experimental medicine and biology.

Fundus autofluorescence in patients with leber congenital amaurosis.

A. Bird, G. Holder, A. Moore, 2004, Investigative ophthalmology & visual science.

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

A. Bird, F. Fitzke, A. Webster, 2006, British Journal of Ophthalmology.

Novel phenotypic and genotypic findings in X-linked retinoschisis.

S. Tsang, A. Bird, G. Holder, 2007, Archives of ophthalmology.

Jalili Syndrome: Cross-sectional and Longitudinal Features of Seven Patients With Cone-Rod Dystrophy and Amelogenesis Imperfecta

O. Mahroo, M. Michaelides, A. Moore, 2018, American journal of ophthalmology.

ISCEV guide to visual electrodiagnostic procedures

S. Brodie, A. Fulton, A. Tormene, 2018, Documenta Ophthalmologica.

ISCEV extended protocol for the dark-adapted red flash ERG

Dorothy A. Thompson, I. Perlman, R. Hamilton, 2018, Documenta ophthalmologica. Advances in ophthalmology.

ISCEV extended protocol for the photopic On–Off ERG

J. Kremers, G. Holder, N. Khan, 2018, Documenta ophthalmologica. Advances in ophthalmology.

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

A. Messias, M. Kondo, R. Hamilton, 2019, Documenta ophthalmologica. Advances in ophthalmology.

ISCEV Standard for full-field clinical electroretinography (2022 update)

L. Frishman, J. Grigg, B. Jeffrey, 2022, Documenta Ophthalmologica.

Objective assessment of chromatic and achromatic pattern adaptation reveals the temporal response properties of different visual pathways

J. Kulikowski, A. Robson, 2008, Visual Neuroscience.

Isolated rod dysfunction associated with a novel genotype of CNGB1

G. Holder, G. Arno, A. Webster, 2019, American journal of ophthalmology case reports.

Clinical and Molecular Characteristics of Childhood-Onset Stargardt Disease

K. Tsubota, G. Holder, K. Tsunoda, 2014, Ophthalmology.

Disease Expression in Autosomal Recessive Retinal Dystrophy Associated With Mutations in the DRAM2 Gene.

P. Charbel Issa, G. Holder, V. Plagnol, 2015, Investigative ophthalmology & visual science.

NORMAL ELECTROOCULOGRAPHY IN BEST DISEASE AND AUTOSOMAL RECESSIVE BESTROPHINOPATHY

G. Holder, M. Michaelides, A. Webster, 2018, Retina.

Selective stimulation of colour vision in humans.

J. Kulikowski, D. McKeefry, A. Robson, 1997 .

Axial Length Distributions in Patients With Genetically Confirmed Inherited Retinal Diseases

D. Mackey, F. Chen, C. Hammond, 2022, Investigative ophthalmology & visual science.

Clinical Characterization of CNGB1-Related Autosomal Recessive Retinitis Pigmentosa

Dorothy A. Thompson, G. Holder, V. Plagnol, 2017, JAMA ophthalmology.

Explorer A rare de novo nonsense mutation in OTX 2 causes early onset retinal dystrophy and pituitary dysfunction

G. Holder, D. Fitzpatrick, A. Webster, 2018 .

A rare de novo nonsense mutation in OTX2 causes early onset retinal dystrophy and pituitary dysfunction

G. Holder, D. Fitzpatrick, A. Webster, 2009, Molecular vision.

MUTATIONS IN THE USH1C GENE ASSOCIATED WITH SECTOR RETINITIS PIGMENTOSA AND HEARING LOSS

K. Steel, M. Bitner-Glindzicz, G. Holder, 2011, Retina.

Ophthalmological Manifestations of Oculocutaneous and Ocular Albinism: Current Perspectives

M. Neveu, A. Robson, S. Jalali, 2022, Clinical ophthalmology.

Responses of V1 cells in primate reveal excitatory convergence of P & M channels

J. Kulikowski, B. Dreher, Trichur Raman Vidyasagar, 1998 .

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

G. Holder, M. Michaelides, A. Webster, 2016, Investigative ophthalmology & visual science.

Retina The Effect on Retinal Structure and Function of 15 Specific ABCA 4 Mutations : A Detailed Examination of 82 Hemizygous Patients

G. Holder, M. Michaelides, A. Webster, 2016 .

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

G. Holder, F. Raymond, R. MacLaren, 2017, JAMA ophthalmology.

High-resolution optical coherence tomography imaging in KCNV2 retinopathy

G. Holder, P. Sergouniotis, M. Michaelides, 2011, British Journal of Ophthalmology.

A clinical and molecular characterisation of CRB1-associated maculopathy

G. Holder, O. Mahroo, K. Carss, 2018, European Journal of Human Genetics.

Mutations in BMP4 cause eye, brain, and digit developmental anomalies: overlap between the BMP4 and hedgehog signaling pathways.

C. Ponting, H. Johansen-Berg, J. Klein, 2008, American journal of human genetics.

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

V. Plagnol, Nikolas Pontikos, G. Arno, 2018, Human mutation.

PRPH2 MUTATIONS AS A CAUSE OF ELECTRONEGATIVE ERG

G. Holder, A. Webster, A. Moore, 2013, Retina.

Retinal dysfunction and refractive errors: an electrophysiological study of children

I. Flitcroft, A. Robson, G. Holder, 2005, British Journal of Ophthalmology.

Topical corticosteroids potentiate mucin secretion in the normal nose.

F. Macgregor, A. Robson, N. Pride, 1996, Clinical otolaryngology and allied sciences.

Evaluation of fluocinolone acetonide 0.19 mg intravitreal implant in the management of birdshot retinochoroiditis

M. Westcott, A. Robson, C. Pavesio, 2020, British Journal of Ophthalmology.

Clinical characterization of CNGB 1 related autosomal recessive retinitis 1 pigmentosa

G. Holder, D. Phil., G. Arno, 2016 .

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

G. Holder, P. Sergouniotis, A. Webster, 2010, Molecular vision.

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

G. Holder, A. Rees, M. Westcott, 2017, British Journal of Ophthalmology.

Autosomal Recessive Bestrophinopathy

G. Casalino, Nikolas Pontikos, M. Michaelides, 2020, Ophthalmology.

Autosomal recessive bestrophinopathy: clinical features, natural history and genetic findings in preparation for clinical trials

Nikolas Pontikos, M. Michaelides, A. Webster, 2020 .

Pathogenic NR2F1 variants cause a developmental ocular phenotype recapitulated in a mutant mouse model

R. Bowman, G. Holder, M. Caleo, 2021, Brain communications.

Electrophysiological and Structural Changes in Chinese Patients with LHON

Yong Liu, A. Robson, Xiaohong Meng, 2020, Journal of ophthalmology.

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

F. Rahman, M. Michaelides, A. Moore, 2010, Molecular vision.

Unilateral pigmentary retinopathy: a retrospective case series

G. Holder, R. MacLaren, A. Webster, 2018, Acta ophthalmologica.

Macular pigment and the colour-specificity of visual evoked potentials

J. Kulikowski, J. Moreland, A. Robson, 1998, Vision Research.

Pattern ERGs suggest a possible retinal contribution to the visual acuity loss in acute optic neuritis

G. Plant, G. Holder, A. Robson, 2022, Documenta Ophthalmologica.

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

G. Holder, V. Plagnol, P. Sergouniotis, 2011, American journal of human genetics.

Encoding Group V Phospholipase A 2 , Cause Benign Fleck Retina

G. Holder, V. Plagnol, P. Sergouniotis, 2011 .

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

A. Robson, Christopher J Lyons, 2017, JAMA ophthalmology.

Ceramide synthase TLCD3B is a novel gene associated with human recessive retinal dystrophy

Rui Chen, F. Raymond, K. Carss, 2020, Genetics in Medicine.

Detailed phenotypic and genotypic characterization of bietti crystalline dystrophy.

R. Holt, E. Volpi, G. Holder, 2014, Ophthalmology.

Pseudoxanthoma elasticum with generalized retinal dysfunction, a common finding?

A. Bird, G. Holder, A. Webster, 2007, Investigative ophthalmology & visual science.

Early onset retinal dystrophy due to mutations in LRAT: molecular analysis and detailed phenotypic study.

A. Stockman, C. Ripamonti, G. Holder, 2012, Investigative ophthalmology & visual science.

Scalp VEPs and intra-cortical responses to chromatic and achromatic stimuli in primates

J. Kulikowski, I. Murray, A. Robson, 2002, Documenta Ophthalmologica.

Novel disease-causing variant in RDH12 presenting with autosomal dominant retinitis pigmentosa

Karen M. Oprych, G. Arno, M. Michaelides, 2021, British Journal of Ophthalmology.

Electrophysiological monitoring in a patient with an optic nerve glioma

G. Holder, A. Robson, G. Rose, 2008, Documenta Ophthalmologica.

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

Graham E. Holder, Anthony G. Robson, G. Holder, 2007, Graefe's Archive for Clinical and Experimental Ophthalmology.

Optimization of large field tritan stimuli using concentric isoluminant annuli.

N. Parry, A. Robson, 2012, Journal of vision.

Electrophysiology in neuro-ophthalmology.

A. Robson, N. Jurkute, Neringa Jurkute, 2021, Handbook of clinical neurology.

THE VALUE OF TWO-FIELD PATTERN ELECTRORETINOGRAM IN ROUTINE CLINICAL ELECTROPHYSIOLOGIC PRACTICE

G. Holder, E. Lenassi, M. Hawlina, 2012, Retina.

ISCEV Standard for full-field clinical electroretinography (2022 update)

L. Frishman, J. Grigg, B. Jeffrey, 2022, Documenta Ophthalmologica.

X-linked megalocornea caused by mutations in CHRDL1 identifies an essential role for ventroptin in anterior segment development.

S. Sisodiya, D. Mackey, S. Tuft, 2012, American Journal of Human Genetics.

Electrophysiological characterisation and monitoring in the management of birdshot chorioretinopathy

A. Robson, G. Holder, E. Graham, 2005, British Journal of Ophthalmology.

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

Adnan Tufail, Lyndon da Cruz, Odysseas Georgiadis, 2018, Nature Biotechnology.

Extending the phenotypic spectrum of PRPF8, PRPH2, RP1 and RPGR, and the genotypic spectrum of early-onset severe retinal dystrophy

Nikolas Pontikos, M. Michaelides, M. Georgiou, 2021, Orphanet Journal of Rare Diseases.

The negative ERG: clinical phenotypes and disease mechanisms of inner retinal dysfunction.

G. Holder, A. Moore, I. Audo, 2008, Survey of ophthalmology.

The X-linked retinopathies: Physiological insights, pathogenic mechanisms, phenotypic features and novel therapies

A. Bird, O. Mahroo, Nikolas Pontikos, 2020, Progress in Retinal and Eye Research.

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

G. Holder, S. Halford, V. Plagnol, 2016, JAMA ophthalmology.

Characterization of CDH 3-Related Congenital Hypotrichosis With JuvenileMacular Dystrophy

G. Holder, S. Halford, V. Plagnol, 2016 .

The phenotypic variability of retinal dystrophies associated with mutations in CRX, with report of a novel macular dystrophy phenotype.

Dorothy A. Thompson, G. Holder, V. Plagnol, 2014, Investigative ophthalmology & visual science.

Juvenile Neuronal Ceroid Lipofuscinosis (Batten Disease) CLN3 Mutation (Chrom 16p11.2) with Different Phenotypes in a Sibling Pair and Low Intensity in vivo Autofluorescence

I. Mantel, C. Bellmann, M. Brantley, 2004, Klinische Monatsblatter fur Augenheilkunde.

Chapter 14 Genetically determined disorders of retinal function

G. Holder, A. Robson, 2005 .

Juvenile Batten Disease (CLN3): Detailed Ocular Phenotype, Novel Observations, Delayed Diagnosis, Masquerades, and Prospects for Therapy

Nikolas Pontikos, M. Michaelides, M. Neveu, 2019, Ophthalmology. Retina.

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

F. Cremers, G. Holder, F. Raymond, 2016, Investigative ophthalmology & visual science.

Molecular and Clinical Findings in Patients With Knobloch Syndrome.

G. Holder, Rui Chen, G. Arno, 2016, JAMA ophthalmology.

Paediatric Electrophysiology: A Practical Approach

G. Holder, A. Robson, 2006 .

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

P. Sergouniotis, A. Webster, A. Moore, 2011, Eye.

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

Dorothy A. Thompson, G. Holder, P. Sergouniotis, 2010, British Journal of Ophthalmology.

Molecular modeling indicates distinct classes of missense variants with mild and severe XLRS phenotypes.

P. Sieving, G. Holder, A. Webster, 2013, Human molecular genetics.

Early Patterns of Macular Degeneration in ABCA4-Associated Retinopathy

K. Tsunoda, O. Mahroo, M. Michaelides, 2018, Ophthalmology.

A longitudinal study of stargardt disease: clinical and electrophysiologic assessment, progression, and genotype correlations.

K. Tsubota, E. Stone, G. Holder, 2013, American journal of ophthalmology.

The clinical effect of homozygous ABCA4 alleles in 18 patients.

K. Tsubota, G. Holder, K. Tsunoda, 2013, Ophthalmology.

Phenotypic variability in RDH5 retinopathy (Fundus Albipunctatus).

G. Holder, P. Sergouniotis, A. Webster, 2011, Ophthalmology.

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

K. Tsubota, G. Holder, K. Tsunoda, 2013, American journal of ophthalmology.

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

G. Holder, V. Plagnol, G. Arno, 2015, Investigative ophthalmology & visual science.

Macula-predominant retinopathy associated with biallelic variants in RDH12

G. Arno, M. Michaelides, A. Webster, 2020, Ophthalmic genetics.

Leber Congenital Amaurosis Associated with AIPL1: Challenges in Ascribing Disease Causation, Clinical Findings, and Implications for Gene Therapy

Dorothy A. Thompson, R. MacLaren, M. Michaelides, 2012, PloS one.

STRUCTURAL AND FUNCTIONAL RETINAL CHANGES IN EYES WITH DUSN

G. Holder, A. Robson, C. Pavesio, 2014, Retina.

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

G. Holder, G. Arno, P. Sergouniotis, 2014, JAMA ophthalmology.

Clinical and molecular characterization of familial exudative vitreoretinopathy associated with microcephaly.

S. Mansour, Nikolas Pontikos, G. Arno, 2019, American journal of ophthalmology.

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

M. Michaelides, A. Webster, A. Moore, 2016, Investigative ophthalmology & visual science.

Retina Phenotype and Progression of Retinal Degeneration Associated With Nullizigosity of ABCA 4

G. Holder, M. Michaelides, A. Webster, 2016 .

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

G. Holder, R. MacLaren, R. Burgess, 2008, Journal of Medical Genetics.

CRB1-Associated Retinal Dystrophies: Genetics, Clinical Characteristics, and Natural History

O. Mahroo, M. Michaelides, A. Webster, 2022, American journal of ophthalmology.

A clinical and molecular characterisation of CRB1-associated maculopathy

G. Holder, O. Mahroo, K. Carss, 2018, European Journal of Human Genetics.

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

M. Crossland, G. Rubin, C. Ripamonti, 2018, Ophthalmology.

Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration.

Sri V. V. Deevi, Eleanor F. Dewhurst, Lorena E. Lorenzo, 2017, American journal of human genetics.

Mutation of ARHGEF 18 causes adult-onset retinal degeneration and underscores a key role of apicobasal polarity proteins in the maintenance of human photoreceptors

G. Holder, V. Plagnol, F. Raymond, 2022 .

Expanding the FDXR-Associated Disease Phenotype: Retinal Dystrophy Is a Recurrent Ocular Feature

P. Yu-Wai-Man, F. Raymond, G. Lenaers, 2021, Investigative ophthalmology & visual science.

RP1L1 Variants are Associated with a Spectrum of Inherited Retinal Diseases Including Retinitis Pigmentosa and Occult Macular Dystrophy

G. Holder, V. Plagnol, P. Sergouniotis, 2013, Human mutation.

ISCEV standard for clinical electro-oculography (2010 update)

Michael Bach, Paul A. Constable, Laura J. Frishman, 2011, Documenta Ophthalmologica.

Electrodiagnostic assessment in optic nerve disease

G. Holder, R. Gale, A. Robson, 2009, Current opinion in neurology.

Clinical heterogeneity in a family with mutations in USH2A.

M. Bitner-Glindzicz, E. Lenassi, A. Webster, 2015, JAMA ophthalmology.

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

Caterina Ripamonti, Naheed Kanuga, Michel Michaelides, 2010, American journal of human genetics.

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

N. Strouthidis, M. Michaelides, E. Maher, 2007, American journal of ophthalmology.

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

G. Holder, A. Moore, A. Robson, 2012, Eye.

Unilateral electronegative ERG of non-vascular aetiology

A. Koh, A. Robson, G. Holder, 2005, British Journal of Ophthalmology.

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

G. Holder, M. Westcott, A. Robson, 2015, British Journal of Ophthalmology.

“CONE DYSTROPHY WITH SUPERNORMAL ROD ELECTRORETINOGRAM”: A COMPREHENSIVE GENOTYPE/PHENOTYPE STUDY INCLUDING FUNDUS AUTOFLUORESCENCE AND EXTENSIVE ELECTROPHYSIOLOGY

D. Hunt, G. Holder, M. Michaelides, 2010, Retina.

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

D. Hunt, A. Bird, G. Holder, 2006, American journal of human genetics.

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

G. Holder, P. Sergouniotis, M. Michaelides, 2009, American journal of human genetics.

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

M. Bitner-Glindzicz, A. Stockman, K. Brock, 2022, American journal of ophthalmology.

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

Monkol Lek, Daniel G MacArthur, Vincent Plagnol, 2014, American journal of human genetics.

Biallelic mutation of BEST1 causes a distinct retinopathy in humans.

G. Holder, R. Burgess, A. Webster, 2008, American journal of human genetics.

Enhanced S-Cone Syndrome

G. Arno, M. Michaelides, A. Robson, 2020, Ophthalmology. Retina.

Typical best vitelliform dystrophy secondary to biallelic variants in BEST1.

M. Michaelides, A. Webster, A. Robson, 2023, Ophthalmic genetics.

Unilateral BEST1-Associated Retinopathy

Dorothy A. Thompson, G. Holder, M. Michaelides, 2016, American journal of ophthalmology.

Childhood-onset autosomal recessive bestrophinopathy.

Dorothy A. Thompson, G. Holder, A. Webster, 2011, Archives of ophthalmology.

Comparison of fundus autofluorescence with photopic and scotopic fine-matrix mapping in patients with retinitis pigmentosa and normal visual acuity.

A. Bird, G. Holder, F. Fitzke, 2004, Investigative ophthalmology & visual science.

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

A. Bird, A. Webster, A. Robson, 2008, British Journal of Ophthalmology.

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

A. Messias, B. Jeffrey, A. Robson, 2019, Documenta ophthalmologica. Advances in ophthalmology.

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

A. Bird, F. Fitzke, M. Michaelides, 2007, British Journal of Ophthalmology.

A large animal model of RDH5-associated retinopathy recapitulates important features of the human phenotype.

K. Palczewski, Kelian Sun, O. Mahroo, 2021, Human molecular genetics.

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

A. Stockman, C. Ripamonti, G. Holder, 2012, Advances in experimental medicine and biology.

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

A. Stockman, R. Mukherjee, A. Webster, 2014, Eye.

Chromatic VEP assessment of human macular pigment: Comparison with minimum motion and minimum flicker profiles

J. Kulikowski, G. Holder, J. Moreland, 2006, Visual Neuroscience.

KCNV2 retinopathy: clinical features, molecular genetics and directions for future therapy

M. Michaelides, M. Georgiou, A. Robson, 2020, Ophthalmic genetics.

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

J L Barbur, M Rodriguez-Carmona, J. Barbur, 2010, Ophthalmic & physiological optics : the journal of the British College of Ophthalmic Opticians.

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

A. Robson, Simon R. J. Taylor, Eleni Karatsai, 2019, JAMA ophthalmology.

SSBP1 mutations in dominant optic atrophy with variable retinal degeneration

M. Votruba, P. Yu-Wai-Man, G. Arno, 2019, Annals of neurology.

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

G. Holder, P. Sergouniotis, A. Webster, 2012, Acta ophthalmologica.

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

G. Holder, A. Day, A. Robson, 2010, Documenta Ophthalmologica.

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

Richard M.H. Lee, A. Robson, E. Hughes, 2013, Documenta Ophthalmologica.

Autofluorescence findings in acute exudative polymorphous vitelliform maculopathy.

A. Bird, G. Holder, A. Webster, 2007, Archives of ophthalmology.

Xanthophyll accumulation in the human retina during supplementation with lutein or zeaxanthin - the LUXEA (LUtein Xanthophyll Eye Accumulation) study.

A. Bird, F. V. van Kuijk, W. Schalch, 2007, Archives of biochemistry and biophysics.

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

Fred W. Fitzke, Graham E. Holder, Anthony G. Robson, 2003, Vision Research.

SSBP1-Disease Update: Expanding the Genetic and Clinical Spectrum, Reporting Variable Penetrance and Confirming Recessive Inheritance

P. Yu-Wai-Man, F. Raymond, G. Arno, 2021, Investigative ophthalmology & visual science.

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

D. Hunt, G. Holder, E. White, 2010, Investigative ophthalmology & visual science.

ISCEV standard for clinical multifocal electroretinography (mfERG) (2021 update)

Michael Bach, Michael B. Hoffmann, Mineo Kondo, 2021, Documenta Ophthalmologica.

Retinopathy Associated with Biallelic Mutations in PYGM (McArdle Disease)

O. Mahroo, M. Michaelides, A. Webster, 2019, Ophthalmology.

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

P. Sergouniotis, A. Webster, A. Moore, 2012, Archives of ophthalmology.

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

N. Parry, A. Robson, 2008, Visual Neuroscience.

PATHOGNOMONIC (DIAGNOSTIC) ERGs A Review and Update

G. Holder, A. Robson, A. Vincent, 2013, Retina.

Preserved visual function in retinal dystrophy due to hypomorphic RPE65 mutations

G. Holder, R. Mukherjee, M. Michaelides, 2016, British Journal of Ophthalmology.

Delineating the expanding phenotype associated with SCAPER gene mutation

Rui Chen, F. Raymond, K. Carss, 2019, American journal of medical genetics. Part A.

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

G. Holder, P. Sergouniotis, M. Michaelides, 2013, Acta ophthalmologica.

A clinical study of patients with novel CDHR1 genotypes associated with late-onset macular dystrophy

O. Mahroo, G. Arno, M. Michaelides, 2020, Eye.

Clinical characteristics of early retinal disease due to CDHR1 mutation

G. Holder, V. Plagnol, P. Sergouniotis, 2013, Molecular vision.

PIGMENTED PARAVENOUS CHORIORETINAL ATROPHY: Detailed Clinical Study of a Large Cohort

M. Michaelides, A. Webster, A. Moore, 2019, Retina.

Clinicopathological case series of four patients with inherited macular disease.

G. Holder, L. da Cruz, F. Chen, 2009, Investigative ophthalmology & visual science.

MONOZYGOTIC TWINS DISCORDANT FOR ASYMMETRIC PIGMENTED PARAVENOUS CHORIORETINAL ATROPHY

A. Webster, A. Robson, R. Ba-Abbad, 2020, Retinal cases & brief reports.

Rod-cone dystrophy associated with the Gly167Asp variant in PRPH2

M. Michaelides, A. Webster, A. Robson, 2019, Ophthalmic Genetics.

Long-term follow-up of a case of posterior microphthalmos (PRSS56) with hyperautofluorescent retinal pigment epithelial deposits

S. Sivaprasad, A. Webster, A. Robson, 2020, European journal of ophthalmology.

Macular pigment parameters in patients with macular telangiectasia (MacTel) and normal subjects: implications of a novel analysis.

A. Bird, C. Bunce, J. Moreland, 2012, Investigative ophthalmology & visual science.

KCNV2-Associated Retinopathy: Genetics, Electrophysiology, and Clinical Course—KCNV2 Study Group Report 1

E. Zrenner, D. Sharon, K. Tsunoda, 2020, American journal of ophthalmology.

GUCY2D-Associated Leber Congenital Amaurosis: A Retrospective Natural History Study in Preparation for Trials of Novel Therapies

Nikolas Pontikos, G. Arno, M. Michaelides, 2019, American journal of ophthalmology.

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

M. Michaelides, A. Webster, A. Moore, 2018, Ophthalmology.

Electrophysiological Characterization of Macular Telangiectasia Type 2 (MacTel)

G. Holder, C. Egan, A. Robson, 2017 .

ELECTROPHYSIOLOGICAL CHARACTERIZATION OF MACULAR TELANGIECTASIA TYPE 2 AND STRUCTURE–FUNCTION CORRELATION

G. Holder, M. Fruttiger, C. Egan, 2017, Retina.

RP2-associated X-linked Retinopathy: Clinical Findings, Molecular Genetics, and Natural History.

O. Mahroo, Nikolas Pontikos, M. Michaelides, 2022, Ophthalmology.

Structural and Functional Characteristics of Color Vision Changes in Choroideremia

H. Bridge, L. da Cruz, E. Bloch, 2021, Frontiers in Neuroscience.

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

G. Holder, S. Mansour, A. Moore, 2016, Acta ophthalmologica.

Exome sequencing reveals ADAM9 mutations in a child with cone‐rod dystrophy

V. Plagnol, G. Arno, A. Webster, 2015, Acta ophthalmologica.

Comparison of Motion Photometry and 2-Wavelength Fundus Autofluorescence Assessments of Macular Pigment Spatial Profiles in Healthy Subjects

J. Moreland, C. Egan, A. Robson, 2009 .

Comparison of Fundus Autofluorescence and Minimum-Motion Measurements of Macular Pigment Distribution Profiles Derived from Identical Retinal Areas

A. Bird, F. V. van Kuijk, G. Holder, 2005, Perception.

Macular pigment assessment using a colour monitor

J. Kulikowski, J. Moreland, A. Robson, 2001 .

Inherited retinal dystrophy and asymmetric axial length

S. Kaushal, A. Moore, P. Francis, 2002, The British journal of ophthalmology.

Electroretinogram measures in a septuagenarian population

R. Uauy, A. Bird, G. Holder, 2011, Documenta Ophthalmologica.

Integration Times Reveal Mechanisms Responding to Isoluminant Chromatic Gratings: A Two-Centre Visual Evoked Potential Study

Janus J. Kulikowski, A. G. Robson, Milena Korostenskaja, 2010 .

Objective specification of tritanopic confusion lines using visual evoked potentials

A. G Robson, J. J Kulikowski, J. Kulikowski, 1998, Vision Research.

Variables affecting activation of the blue/yellow pathway using VEPs as an index of specificity

J. Kulikowski, A. Robson, 1996 .

The effect of pattern adaptation on chromatic and achromatic visual evoked potentials

J. Kulikowski, A. Robson, 2001 .

Verification of Human Visual-Evoked Potentials (Veps) Elicited by Gratings Containing Tritanopic Pairs of Hues

J. Kulikowski, A. Robson, 1995 .

Clinical andMolecular Characterization of Enhanced SCone Syndrome in Children

G. Holder, G. Arno, P. Sergouniotis, 2014 .

Tonic pupils from giant cell arteritis

R. Sergott, P. Savino, L. Ficker, 2022 .

CERKL-associated retinal dystrophy: Genetics, Phenotype and Natural History.

O. Mahroo, M. Michaelides, A. Webster, 2023, Ophthalmology. Retina.

Variability of retinopathy consequent upon novel mutations in LAMA1

G. Arno, A. Webster, A. Robson, 2022, Ophthalmic genetics.

A case of recurring acute exudative polymorphous vitelliform maculopathy successfully treated with intravitreal Ozurdex injection.

A. Robson, Hanbin Lee, Vaishali Lodhia, 2023, European journal of ophthalmology.

Quinine toxicity.

S. Lightman, A. Robson, E. H. Dyson, 1986, Adverse drug reactions and acute poisoning reviews.

ISCEV Standard for clinical electro-oculography (2017 update)

M. Bach, L. Frishman, B. Jeffrey, 2017, Documenta Ophthalmologica.

ISCEV extended protocol for the S-cone ERG

Ido Perlman, Graham E. Holder, Mineo Kondo, 2019, Documenta Ophthalmologica.

Clinical and Genetic Findings in CTNNA1-Associated Macular Pattern Dystrophy

J. Pulido, O. Mahroo, G. Arno, 2020, Ophthalmology.

Electrophysiology as a prognostic indicator of visual recovery in diabetic patients undergoing cataract surgery

A. Robson, Shiying Li, Min Wang, 2021, Graefe's Archive for Clinical and Experimental Ophthalmology.

ISCEV guidelines for calibration and verification of stimuli and recording instruments (2023 update)

M. Bach, M. Brigell, J. Odom, 2023, Documenta Ophthalmologica.

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

G. Holder, M. Michaelides, A. Webster, 2011, British Journal of Ophthalmology.

Molecular modeling indicates distinct classes of missense variants with mild and severe XLRS phenotypes.

P. Sieving, G. Holder, A. Webster, 2013, Human molecular genetics.

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

F. Cremers, F. Raymond, K. Carss, 2016, Investigative ophthalmology & visual science.

RP1L1 Variants are Associated with a Spectrum of Inherited Retinal Diseases Including Retinitis Pigmentosa and Occult Macular Dystrophy

G. Holder, V. Plagnol, P. Sergouniotis, 2013, Human mutation.

ISCEV guidelines for measurement and calibration of stimulus and recording parameters used in clinical electrophysiology of vision, 2020 edition

M. Bach, M. Brigell, J. Odom, 2019 .

Title: SSBP1 mutations in dominant optic atrophy with variable retinal degeneration Running head: SSBP1 missense variants cause optic atrophy

Wai-man, M. Votruba, M. Michaelides, 2019 .

PRPH2 MUTATIONS AS A CAUSE OF ELECTRONEGATIVE ERG

G. Holder, A. Webster, A. Robson, 2013, Retina.

X-linked megalocornea caused by mutations in CHRDL1 identifies an essential role for ventroptin in anterior segment development.

S. Sisodiya, D. Mackey, S. Tuft, 2012, American journal of human genetics.

Inherited Retinal Dystrophy and Asymmetric Axial Length

S. Kaushal, P. Francis, A. Robson, 2002 .

Tonic pupils from giant cell arteritis

J. Bainbridge, L. Ficker, J. Sakai, 2022 .

Retinal dysfunction and refractive errors: an electrophysiological study of children

I. Flitcroft, A. Robson, D. Flitcroft, 2005, British Journal of Ophthalmology.

Spatial, temporal and chromatic channels: electrophysiological foundations

Janus J. Kulikowski, Anthony G. Robson, J. Kulikowski, 1999 .

Phenotyping and genotyping inherited retinal diseases: Molecular genetics, clinical and imaging features, and therapeutics of macular dystrophies, cone and cone-rod dystrophies, rod-cone dystrophies, Leber congenital amaurosis, and cone dysfunction syndromes

M. Georgiou, A. Robson, A. Kalitzeos, 2024, Progress in Retinal and Eye Research.

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

G. Holder, R. MacLaren, R. Burgess, 2008, Journal of Medical Genetics.

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

D. Hunt, G. Holder, E. White, 2010, Investigative ophthalmology & visual science.

Clinical Phenotype and Molecular Genetic Findings in CLN 3-Associated Isolated Retinal Degeneration

K. Carss, G. Arno, E. Héon, 2017 .

Phenotyping of ABCA4 Retinopathy by Machine Learning Analysis of Full-Field Electroretinography

P. Keane, S. Wagner, O. Mahroo, 2022, Translational vision science & technology.