about
Recessive mutations of the gene TRPM1 abrogate ON bipolar cell function and cause complete congenital stationary night blindness in humansX-linked cone dystrophy caused by mutation of the red and green cone opsinsMutations in the gene KCNV2 encoding a voltage-gated potassium channel subunit cause "cone dystrophy with supernormal rod electroretinogram" in humansBiallelic variants in TTLL5, encoding a tubulin glutamylase, cause retinal dystrophyBiallelic mutation of BEST1 causes a distinct retinopathy in humansNonsense mutation in TMEM126A causing autosomal recessive optic atrophy and auditory neuropathy.Macular pigment density and distribution: comparison of fundus autofluorescence with minimum motion photometry.Pattern ERG correlates of abnormal fundus autofluorescence in patients with retinitis pigmentosa and normal visual acuity.Fundus autofluorescence in patients with leber congenital amaurosis.Comparison of fundus autofluorescence and minimum-motion measurements of macular pigment distribution profiles derived from identical retinal areas.A detailed phenotypic assessment of individuals affected by MFRP-related oculopathy.The PROM1 mutation p.R373C causes an autosomal dominant bull's eye maculopathy associated with rod, rod-cone, and macular dystrophy.Leber congenital amaurosis associated with AIPL1: challenges in ascribing disease causation, clinical findings, and implications for gene therapy.Three different cone opsin gene array mutational mechanisms with genotype-phenotype correlation and functional investigation of cone opsin variantsCongenital stationary night blindness: an analysis and update of genotype-phenotype correlations and pathogenic mechanisms.Molecular and Clinical Findings in Patients With Knobloch Syndrome.Retinal dysfunction and refractive errors: an electrophysiological study of children.Electrophysiological characterisation and monitoring in the management of birdshot chorioretinopathy.Unilateral electronegative ERG of non-vascular aetiology.Biallelic mutations in PLA2G5, encoding group V phospholipase A2, cause benign fleck retinaClinical and molecular characteristics of childhood-onset Stargardt disease.Congenital high myopia and central macular atrophy: a report of 3 families.Unilateral BEST1-Associated Retinopathy.Clinical characteristics of early retinal disease due to CDHR1 mutation.Electrodiagnostic assessment in optic nerve disease.Novel phenotypic and genotypic findings in X-linked retinoschisis.ISCEV Standard for clinical electro-oculography (2017 update).A detailed phenotypic description of autosomal dominant cone dystrophy due to a de novo mutation in the GUCY2D gene.Pathognomonic (diagnostic) ERGs. A review and update.Screening of SPATA7 in patients with Leber congenital amaurosis and severe childhood-onset retinal dystrophy reveals disease-causing mutations.Pointwise linear regression analysis of serial Humphrey visual fields and a correlation with electroretinography in birdshot chorioretinopathy.ELECTROPHYSIOLOGICAL CHARACTERIZATION OF MACULAR TELANGIECTASIA TYPE 2 AND STRUCTURE-FUNCTION CORRELATION.The Effect on Retinal Structure and Function of 15 Specific ABCA4 Mutations: A Detailed Examination of 82 Hemizygous Patients.Electroretinogram measures in a septuagenarian population.Detailed Clinical Phenotype and Molecular Genetic Findings in CLN3-Associated Isolated Retinal Degeneration.Reevaluation of the Retinal Dystrophy Due to Recessive Alleles of RGR With the Discovery of a Cis-Acting Mutation in CDHR1.Functional correlates of fundus autofluorescence abnormalities in patients with RPGR or RIMS1 mutations causing cone or cone rod dystrophy.Ocular manifestations of microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) syndrome associated with mutations in KIF11.Bilateral epiretinal membranes in Gorlin syndrome associated with a novel PTCH mutation.Functional characterisation and serial imaging of abnormal fundus autofluorescence in patients with retinitis pigmentosa and normal visual acuity
P50
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P50
description
researcher
@en
name
A G Robson
@en
A G Robson
@nl
type
label
A G Robson
@en
A G Robson
@nl
prefLabel
A G Robson
@en
A G Robson
@nl
P106
P31
P496
0000-0002-8391-6123