 | Andrew Royston Webster |
Prominent publications by Andrew Royston Webster
Phenotypic expression in von Hippel-Lindau disease: correlations with germline VHL gene mutations.
[ PUBLICATION ]
Von Hippel-Lindau disease is an autosomal dominantly inherited familial cancer syndrome predisposing to retinal and central nervous system haemangioblastomas, renal cell carcinoma, and phaeochromocytoma. VHL disease shows variable expression and interfamilial differences in predisposition to phaeochromocytoma. In a previous study of 65 VHL kindreds with defined VHL mutations we detected significant differences between VHL families with and without phaeochromocytoma such that missense ...
| Also Ranks for: Missense Mutations | lindau disease | gene mutation | vhl families | age risks |
PURPOSE: To present a detailed phenotypic and molecular study of a series of 18 patients from 11 families with retinal dystrophies consequent on mutations in the cone-rod homeobox (CRX) gene and to report a novel phenotype.
METHODS: Families were ascertained from a tertiary clinic in the United Kingdom and enrolled into retinal dystrophy studies investigating the phenotype and molecular basis of inherited retinal disease. Eleven patients were ascertained from the study cohorts and a ...
| Also Ranks for: Retinal Dystrophies | macular dystrophy | crx mutations | 18 patients | phenotypic variability |
Von Hippel-Lindau (VHL) disease is a dominantly inherited disorder predisposing to retinal and CNS hemangioblastomas, renal cell carcinoma (RCC), pheochromocytoma, and pancreatic tumors. Interfamilial differences in predisposition to pheochromocytoma reflect allelic heterogeneity such that there is a strong association between missense mutations and risk of pheochromocytoma. We investigated the mechanism of tumorigenesis in VHL disease tumors to determine whether there were differences ...
| Also Ranks for: Vhl Gene | lindau disease | somatic inactivation | tumor suppressor | missense mutations |
Germline mutations in the Von Hippel‐Lindau disease (VHL) gene in families from North America, Europe, and Japan
[ PUBLICATION ]
Germline mutation analysis was performed in 469 VHL families from North America, Europe, and Japan. Germline mutations were identified in 300/469 (63%) of the families tested; 137 distinct intragenic germline mutations were detected. Most of the germline VHL mutations (124/137) occurred in 1-2 families; a few occured in four or more families. The common germline VHL mutations were: delPhe76, Asn78Ser, Arg161Stop, Arg167Gln, Arg167Trp, and Leu178Pro. In this large series, it was possible ...
| Also Ranks for: Germline Mutations | hippel‐lindau disease | protein ligases | vhl families | lindau tumor |
BACKGROUND: Usher Syndrome is the leading cause of inherited deaf-blindness. It is divided into three subtypes, of which the most common is Usher type 2, and the USH2A gene accounts for 75-80% of cases. Despite recent sequencing strategies, in our cohort a significant proportion of individuals with Usher type 2 have just one heterozygous disease-causing mutation in USH2A, or no convincing disease-causing mutations across nine Usher genes. The purpose of this study was to improve the ...
| Also Ranks for: Sanger Sequencing | deletions duplications | intronic mutation | usher genes | ush2a gene |
PURPOSE: To characterize retinal structure and function in achromatopsia (ACHM) in preparation for clinical trials of gene therapy.
DESIGN: Cross-sectional study.
PARTICIPANTS: Forty subjects with ACHM.
METHODS: All subjects underwent spectral domain optical coherence tomography (SD-OCT), microperimetry, and molecular genetic testing. Foveal structure on SD-OCT was graded into 5 distinct categories: (1) continuous inner segment ellipsoid (ISe), (2) ISe disruption, (3) ISe absence, (4) ...
| Also Ranks for: Gene Therapy | retinal structure | subjects achm | achromatopsia implications | presence foveal hypoplasia |
OBJECTIVES: To identify CRB1 mutations in a large cohort of patients with recessive retinal dystrophies and to document the retinal phenotype and visual prognosis.
DESIGN: A hospital-based cross-sectional study of children and adults with recessive retinal dystrophies.
PARTICIPANTS: Three hundred and six patients with Leber congenital amaurosis (LCA), early-onset childhood retinal dystrophy or juvenile onset retinitis pigmentosa were recruited to the study and gave blood samples for ...
| Also Ranks for: Retinal Dystrophies | mutations crb1 | phenotypic variability | optical coherence tomography | proteins phenotype |
This study was undertaken to investigate the prevalence of sequence variants in LCA5 in patients with Leber congenital amaurosis (LCA), early-onset retinal dystrophy (EORD), and autosomal recessive retinitis pigmentosa (arRP); to delineate the ocular phenotypes; and to provide an overview of all published LCA5 variants in an online database. Patients underwent standard ophthalmic evaluations after providing informed consent. In selected patients, optical coherence tomography (OCT) and ...
| Also Ranks for: Lca5 Mutations | congenital amaurosis | lca families | new genotype | retinitis pigmentosa |
Identification of Novel RPGR ORF15 Mutations in X-linked Progressive Cone-Rod Dystrophy (XLCORD) Families
[ PUBLICATION ]
PURPOSE: To test the incidence of mutations in RPGR ORF15 in six families with X-linked progressive retinal degeneration (cone-rod dystrophy [XLCORD], macular or cone dystrophy) and to undertake a detailed phenotypic assessment of families in whom ORF15 mutations were identified.
METHODS: To amplify and sequence ORF15 in its entirety, a cloning strategy was developed. Families with mutations in ORF15 underwent electrophysiological testing, color vision assessment, color fundus ...
| Also Ranks for: Orf15 Mutations | progressive cone | parafoveal ring | fundus autofluorescence | rod dystrophy |
The PROM1 Mutation p.R373C Causes an Autosomal Dominant Bull's Eye Maculopathy Associated with Rod, Rod–Cone, and Macular Dystrophy
[ PUBLICATION ]
PURPOSE: To characterize in detail the phenotype of five unrelated families with autosomal dominant bull's eye maculopathy (BEM) due to the R373C mutation in the PROM1 gene.
METHODS: Forty-one individuals of five families of Caribbean (family A), British (families B, D, E), and Italian (family C) origin, segregating the R373C mutation in PROM1, were ascertained. Electrophysiological assessment, fundus autofluorescence (FAF) imaging, fundus fluorescein angiography (FFA), and optical ...
| Also Ranks for: Prom1 Mutation | macular dystrophy | autosomal dominant | eye maculopathy | retinal rod |
PURPOSE: To describe phenotypic variability and report novel mutational data in patients with mutation in RDH5 (fundus albipunctatus).
DESIGN: Retrospective case series.
PARTICIPANTS: Nine patients from 8 families (aged 7-55 years) with night blindness and electrophysiologic or fundoscopic findings in keeping with RDH5 mutation were ascertained.
METHODS: Detailed ophthalmologic examination, fundus photography, fundus autofluorescence imaging, spectral domain optical coherence tomography ...
| Also Ranks for: Fundus Albipunctatus | rdh5 retinopathy | phenotypic variability | dark adaptation | white dots |
PURPOSE: Leber congenital amaurosis (LCA) and early-onset severe retinal dystrophy (EOSRD) are genetically heterogeneous, with 11 genes currently implicated. The LCA chip may be used to interrogate many variants in one hybridization reaction. The purpose of this study was to assess the utility of this technology.
METHODS: One hundred fifty-three patients with LCA and EOSRD were screened using an array (Asper Ophthalmics, Tartu, Estonia) containing 344 published disease-causing variants ...
| Also Ranks for: Leber Congenital Amaurosis | lca mutations | retinal dystrophy | direct sequencing | onset severe |
PurposeUsing exome sequencing, the underlying variants in many persons with autosomal recessive diseases remain undetected. We explored autosomal recessive Stargardt disease (STGD1) as a model to identify the missing heritability.MethodsSequencing of ABCA4 was performed in 8 STGD1 cases with one variant and p.Asn1868Ile in trans, 25 cases with one variant, and 3 cases with no ABCA4 variant. The effect of intronic variants was analyzed using in vitro splice assays in HEK293T cells and ...
| Also Ranks for: Antisense Oligonucleotides | splice defects | missing heritability | abca4 variant | stargardt disease |
Assessing Retinal Structure in Complete Congenital Stationary Night Blindness and Oguchi Disease
[ PUBLICATION ]
PURPOSE: To examine retinal structure and changes in photoreceptor intensity after dark adaptation in patients with complete congenital stationary night blindness and Oguchi disease.
DESIGN: Prospective, observational case series.
METHODS: We recruited 3 patients with complete congenital stationary night blindness caused by mutations in GRM6, 2 brothers with Oguchi disease caused by mutations in GRK1, and 1 normal control. Retinal thickness was measured from optical coherence tomography ...
| Also Ranks for: Oguchi Disease | retinal structure | complete congenital | dark adaptation | grm6 mutations |
Andrew Royston Webster: Influence Statistics
| Concept | World rank |
|---|---|
| vps13b cohen syndrome | #1 |
| hyperautofluorescent rings | #1 |
| percentile fluorescence | #1 |
| biallelic variants rdh12 | #1 |
| institutional readiness | #1 |
| ngs rdh12 | #1 |
| ird patients age | #1 |
| female carriers median | #1 |
| dystrophies tomography | #1 |
| tests chm | #1 |
| rdh12 macular involvement | #1 |
| young adult symmetry | #1 |
| cdhr1 genotypes | #1 |
| ppro261 variant | #1 |
| retinopathy consequent | #1 |
| proposed reference standard | #1 |
| mutations publication adult | #1 |
| 28 unrelated patients | #1 |
| basingstoke palgrave macmillan | #1 |
| diagnostic testing ird | #1 |
| splicing best1 | #1 |
| baseline area age | #1 |
| width ezw measurements | #1 |
| mutation srd5a3 gene | #1 |
| cnv surveillance | #1 |
| young adult myo7a | #1 |
| human choroideremia fibroblasts | #1 |
| best1 variant alters | #1 |
| paf cft | #1 |
| translation regenerative medicine | #1 |
| prognosis retina | #1 |
| clinical adoption paper | #1 |
| usher proteins ear | #1 |
| splicing diagnosis | #1 |
| phenogenon gene | #1 |
| cone dystrophy proband | #1 |
| myo7a eys | #1 |
| male subjects choroideremia | #1 |
| flow chm subjects | #1 |
| cep250 arsg | #1 |
| laser clearance | #1 |
| rp visual acuity | #1 |
| rpgrassociated disease | #1 |
| pathogenesis usher syndrome | #1 |
| cell therapies rri | #1 |
| rora loss | #1 |
| regulation themaking | #1 |
| c5714 | #1 |
| siblings tomography | #1 |
| themaking contrast | #1 |
Key People For Retinitis Pigmentosa
Andrew Royston Webster:Expert Impact
Concepts for whichAndrew Royston Websterhas direct influence:Retinitis pigmentosa, Visual acuity, Retinal dystrophy, Retinal degeneration, Stargardt disease, Regenerative medicine, Retinal dysfunction, Fundus autofluorescence.
Andrew Royston Webster:KOL impact
Concepts related to the work of other authors for whichfor which Andrew Royston Webster has influence:Retinitis pigmentosa, Gene therapy, Stargardt disease, Visual acuity, Usher syndrome, Optical coherence, Fundus autofluorescence.
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