Publications by authors named "Andrew R Webster"

100Publications

Macula-predominant retinopathy associated with biallelic variants in .

Ophthalmic Genet 2020 Aug 13:1-4. Epub 2020 Aug 13.

UCL Institute of Ophthalmology, University College London , London, UK.

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http://dx.doi.org/10.1080/13816810.2020.1802763DOI Listing
August 2020

Retinal detachment in retinitis pigmentosa.

BMJ Open Ophthalmol 2020 9;5(1):e000454. Epub 2020 Jul 9.

Vitreoretinal Service, Moorfields Eye Hospital NHS Foundation Trust, London, UK.

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http://dx.doi.org/10.1136/bmjophth-2020-000454DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7351280PMC
July 2020

Detailed Phenotyping and Therapeutic Strategies for Intronic ABCA4 Variants in Stargardt Disease.

Mol Ther Nucleic Acids 2020 Jun 12;21:412-427. Epub 2020 Jun 12.

Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, the Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.omtn.2020.06.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7352060PMC
June 2020

Monozygotic twins discordant for asymmetric pigmented paravenous chorioretinal atrophy.

Retin Cases Brief Rep 2020 Jun 8. Epub 2020 Jun 8.

Moorfields Eye Hospital, London, United Kingdom.

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http://dx.doi.org/10.1097/ICB.0000000000001018DOI Listing
June 2020

Genetic Basis of Inherited Retinal Disease in a Molecularly Characterized Cohort of More Than 3000 Families from the United Kingdom.

Ophthalmology 2020 Apr 16. Epub 2020 Apr 16.

UCL Institute of Ophthalmology, University College London, London, United Kingdom; Genetics Service, Moorfields Eye Hospital, London, United Kingdom; Section of Ophthalmology, King's College London, St. Thomas' Hospital Campus, London, United Kingdom; Department of Physiology, Development and Neuroscience, University of Cambridge, Cambridge, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/j.ophtha.2020.04.008DOI Listing
April 2020

Macular maldevelopment in -mediated retinal dysfunction.

Ophthalmic Genet 2019 12 3;40(6):564-569. Epub 2020 Jan 3.

Moorfields Eye Hospital, London, UK.

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http://dx.doi.org/10.1080/13816810.2019.1706749DOI Listing
December 2019

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

Am J Ophthalmol 2020 02 5;210:59-70. Epub 2019 Nov 5.

Moorfields Eye Hospital, London, United Kingdom; UCL Institute of Ophthalmology, University College London, London, United Kingdom; UK Inherited Retinal Dystrophy Consortium, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/j.ajo.2019.10.019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7013380PMC
February 2020

Benefit of an electronic head-mounted low vision aid.

Ophthalmic Physiol Opt 2019 11;39(6):422-431

NIHR Biomedical Research Centre for Ophthalmology at Moorfields Eye Hospital, UCL Institute of Ophthalmology, London, UK.

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http://dx.doi.org/10.1111/opo.12646DOI Listing
November 2019

Missense variants in the conserved transmembrane M2 protein domain of KCNJ13 associated with retinovascular changes in humans and zebrafish.

Exp Eye Res 2019 12 21;189:107852. Epub 2019 Oct 21.

UCL Institute of Ophthalmology, London, UK; Moorfields Eye Hospital NHS Foundation Trust, London, UK. Electronic address:

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http://dx.doi.org/10.1016/j.exer.2019.107852DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6899441PMC
December 2019

Clinical and Molecular Characterization of Familial Exudative Vitreoretinopathy Associated With Microcephaly.

Am J Ophthalmol 2019 11 8;207:87-98. Epub 2019 May 8.

UCL Institute of Ophthalmology, University College London, London, United Kingdom; Moorfields Eye Hospital, London, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/j.ajo.2019.05.001DOI Listing
November 2019

Rod-cone dystrophy associated with the Gly167Asp variant in PRPH2.

Ophthalmic Genet 2019 04;40(2):188-189

a UCL Institute of Ophthalmology , University College London , London , UK‎.

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http://dx.doi.org/10.1080/13816810.2019.1605393DOI Listing
April 2019

Isolated rod dysfunction associated with a novel genotype of .

Am J Ophthalmol Case Rep 2019 Jun 19;14:83-86. Epub 2019 Mar 19.

UCL Institute of Ophthalmology, University College London, London, UK.

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https://linkinghub.elsevier.com/retrieve/pii/S24519936183032
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http://dx.doi.org/10.1016/j.ajoc.2019.03.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6438912PMC
June 2019

Loss-of-Function Mutations in the CFH Gene Affecting Alternatively Encoded Factor H-like 1 Protein Cause Dominant Early-Onset Macular Drusen.

Ophthalmology 2019 10 21;126(10):1410-1421. Epub 2019 Mar 21.

Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, Manchester Academic Health Science Centre, University of Manchester, Manchester, United Kingdom; Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Science Centre, St. Mary's Hospital, Manchester, United Kingdom. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S01616420183317
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http://dx.doi.org/10.1016/j.ophtha.2019.03.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6856713PMC
October 2019

Retinopathy Associated with Biallelic Mutations in PYGM (McArdle Disease).

Ophthalmology 2019 02 11;126(2):320-322. Epub 2018 Oct 11.

UCL Institute of Ophthalmology, University College London, London, UK; Genetics and Medical Retina Services, Moorfields Eye Hospital, London, UK.

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https://linkinghub.elsevier.com/retrieve/pii/S01616420183225
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http://dx.doi.org/10.1016/j.ophtha.2018.09.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6347563PMC
February 2019

Prevalence of cystoid macular oedema, epiretinal membrane and cataract in retinitis pigmentosa.

Br J Ophthalmol 2019 08 5;103(8):1163-1166. Epub 2018 Oct 5.

Department of Medical Retina, Moorfields Eye Hospital, London, UK

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http://dx.doi.org/10.1136/bjophthalmol-2018-311964DOI Listing
August 2019

The treatment of refractory angle-closure glaucoma in a patient with X-linked juvenile retinoschisis.

Ophthalmic Genet 2018 10 6;39(5):625-627. Epub 2018 Aug 6.

a Moorfields Eye Hospital NHS Foundation Trust , London , United Kingdom.

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http://dx.doi.org/10.1080/13816810.2018.1490961DOI Listing
October 2018

Retinal findings in a patient with mutations in ABCC6 and ABCA4.

Eye (Lond) 2018 09 16;32(9):1542-1543. Epub 2018 May 16.

UCL Institute of Ophthalmology, 11-43 Bath Street, London, EC1V 9EL, UK.

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http://dx.doi.org/10.1038/s41433-018-0106-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6137180PMC
September 2018

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

Ophthalmology 2018 06 3;125(6):894-903. Epub 2018 Feb 3.

Moorfields Eye Hospital, London, United Kingdom; University College London Institute of Ophthalmology, University College London, United Kingdom. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S01616420173252
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http://dx.doi.org/10.1016/j.ophtha.2017.12.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5974693PMC
June 2018

Factors associated with visual acuity in patients with cystoid macular oedema and Retinitis Pigmentosa.

Ophthalmic Epidemiol 2018 06 15;25(3):183-186. Epub 2017 Nov 15.

b Department of Ophthalmology, Moorfields Eye Hospital , London , UK.

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http://dx.doi.org/10.1080/09286586.2017.1383448DOI Listing
June 2018

Association of C-Reactive Protein Genetic Polymorphisms With Late Age-Related Macular Degeneration.

JAMA Ophthalmol 2017 09;135(9):909-916

Faculty of Epidemiology and Population Health, London School of Hygiene and Tropical Medicine, London, England.

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http://dx.doi.org/10.1001/jamaophthalmol.2017.2191DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5710541PMC
September 2017

Genome-wide RNA-Sequencing analysis identifies a distinct fibrosis gene signature in the conjunctiva after glaucoma surgery.

Sci Rep 2017 07 17;7(1):5644. Epub 2017 Jul 17.

National Institute for Health Research (NIHR) Biomedical Research Centre at Moorfields Eye Hospital NHS Foundation Trust and UCL Institute of Ophthalmology, London, EC1V 9EL, United Kingdom.

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http://dx.doi.org/10.1038/s41598-017-05780-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5514109PMC
July 2017

NORMAL ELECTROOCULOGRAPHY IN BEST DISEASE AND AUTOSOMAL RECESSIVE BESTROPHINOPATHY.

Retina 2018 Feb;38(2):379-386

University College London Institute of Ophthalmology, University College London, London, United Kingdom.

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http://dx.doi.org/10.1097/IAE.0000000000001523DOI Listing
February 2018

Measurement and Reproducibility of Preserved Ellipsoid Zone Area and Preserved Retinal Pigment Epithelium Area in Eyes With Choroideremia.

Am J Ophthalmol 2017 Jul 10;179:110-117. Epub 2017 May 10.

Doheny Image Reading Center, Doheny Eye Institute, Los Angeles, California; Department of Ophthalmology, David Geffen School of Medicine of the University of California-Los Angeles, Los Angeles, California. Electronic address:

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http://dx.doi.org/10.1016/j.ajo.2017.05.002DOI Listing
July 2017

Validation of copy number variation analysis for next-generation sequencing diagnostics.

Eur J Hum Genet 2017 06 5;25(6):719-724. Epub 2017 Apr 5.

Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre, St Mary's Hospital, Manchester, UK.

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http://dx.doi.org/10.1038/ejhg.2017.42DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5427176PMC
June 2017

Benign Yellow Dot Maculopathy: A New Macular Phenotype.

Ophthalmology 2017 07 31;124(7):1004-1013. Epub 2017 Mar 31.

Moorfields Eye Hospital NHS Foundation Trust, London, United Kingdom; UCL Institute of Ophthalmology, London, United Kingdom; Ophthalmology Department, University of California San Francisco, San Francisco, California.

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http://dx.doi.org/10.1016/j.ophtha.2017.02.026DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5503697PMC
July 2017

Quantitative Analysis of Retinal Structure Using Spectral-Domain Optical Coherence Tomography in RPGR-Associated Retinopathy.

Am J Ophthalmol 2017 Jun 18;178:18-26. Epub 2017 Mar 18.

UCL Institute of Ophthalmology, University College London, London, United Kingdom; Moorfields Eye Hospital, London, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/j.ajo.2017.03.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5451208PMC
June 2017

Single-base substitutions in the CHM promoter as a cause of choroideremia.

Hum Mutat 2017 06 24;38(6):704-715. Epub 2017 Mar 24.

Department of Ophthalmology and Visual Sciences, University of Alberta, Edmonton, Canada.

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http://dx.doi.org/10.1002/humu.23212DOI Listing
June 2017

Association of Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation With Early-Onset Retinal Dystrophy.

JAMA Ophthalmol 2017 04;135(4):339-347

Genomic Medicine, Division of Evolution and Genomic Sciences, Faculty of Biology, Medicines and Health, University of Manchester, Manchester Academic Health Science Centre (MAHSC), Manchester, England2Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, MAHSC, Saint Mary's Hospital, Manchester, England.

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http://dx.doi.org/10.1001/jamaophthalmol.2017.0046DOI Listing
April 2017

DETAILED RETINAL IMAGING IN CARRIERS OF OCULAR ALBINISM.

Retina 2018 Mar;38(3):620-628

University College London Institute of Ophthalmology, University College London, London, United Kingdom.

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http://dx.doi.org/10.1097/IAE.0000000000001570DOI Listing
March 2018

Mechanism and evidence of nonsense suppression therapy for genetic eye disorders.

Exp Eye Res 2017 02 6;155:24-37. Epub 2017 Jan 6.

Department of Ocular Biology and Therapeutics, UCL Institute of Ophthalmology, London, UK; Moorfields Eye Hospital NHS Foundation Trust, London, UK. Electronic address:

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http://dx.doi.org/10.1016/j.exer.2017.01.001DOI Listing
February 2017

Clinical Characterization of CNGB1-Related Autosomal Recessive Retinitis Pigmentosa.

JAMA Ophthalmol 2017 Feb;135(2):137-144

Moorfields Eye Hospital, London, England2University College London Institute of Ophthalmology, London, England.

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http://dx.doi.org/10.1001/jamaophthalmol.2016.5213DOI Listing
February 2017

A Novel Method for Quantitative Serial Autofluorescence Analysis in Retinitis Pigmentosa Using Image Characteristics.

Transl Vis Sci Technol 2016 Dec 1;5(6):10. Epub 2016 Dec 1.

Nuffield Department of Clinical Neurosciences, Oxford Biomedical Research Centre, University of Oxford, Oxford, UK ; Oxford Eye Hospital, John Radcliffe Hospital, Oxford, UK ; Moorfields Eye Hospital-UCL Institute of Ophthalmology NIHR Biomedical Research Centre, London, UK.

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http://dx.doi.org/10.1167/tvst.5.6.10DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5142716PMC
December 2016

Mutations in AGBL5, Encoding α-Tubulin Deglutamylase, Are Associated With Autosomal Recessive Retinitis Pigmentosa.

Invest Ophthalmol Vis Sci 2016 Nov;57(14):6180-6187

Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands 13Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen, The Netherlands.

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http://dx.doi.org/10.1167/iovs.16-20148DOI Listing
November 2016

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

Invest Ophthalmol Vis Sci 2016 Nov;57(14):5963-5973

Institute of Ophthalmology, University College London, London, United Kingdom 2Moorfields Eye Hospital, London, United Kingdom.

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http://dx.doi.org/10.1167/iovs.16-20446DOI Listing
November 2016

FUNCTIONAL AND ANATOMICAL OUTCOMES OF CHOROIDAL NEOVASCULARIZATION COMPLICATING BEST1-RELATED RETINOPATHY.

Retina 2017 Jul;37(7):1360-1370

*University College London Institute of Ophthalmology, University College London, London, United Kingdom; †Medical Retina Service, Moorfields Eye Hospital, London, United Kingdom; ‡Department of Ophthalmology, Leeds Institute of Molecular Medicine, St James' University Hospital, Leeds, United Kingdom; and §Department of Ophthalmology, University of California San Francisco Medical School, San Francisco, California.

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http://dx.doi.org/10.1097/IAE.0000000000001357DOI Listing
July 2017

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

Invest Ophthalmol Vis Sci 2016 09;57(11):4668-78

UCL Institute of Ophthalmology, London, United Kingdom 2Moorfields Eye Hospital, London, United Kingdom.

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http://dx.doi.org/10.1167/iovs.16-19829DOI Listing
September 2016

Expanding the Phenotype of TRNT1-Related Immunodeficiency to Include Childhood Cataract and Inner Retinal Dysfunction.

JAMA Ophthalmol 2016 Sep;134(9):1049-53

Institute of Ophthalmology, University College London, London, England2Moorfields Eye Hospital, London, England7Department of Ophthalmology, University of California, San Francisco.

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http://dx.doi.org/10.1001/jamaophthalmol.2015.5833DOI Listing
September 2016

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

JAMA Ophthalmol 2016 Sep;134(9):992-1000

UCL (University College of London) Institute of Ophthalmology, London, England2Moorfields Eye Hospital, London, England.

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http://dx.doi.org/10.1001/jamaophthalmol.2016.2089DOI Listing
September 2016

The clinical features of retinal disease due to a dominant mutation in RPE65.

Mol Vis 2016 10;22:626-35. Epub 2016 Jun 10.

UCL Institute of Ophthalmology, London, UK; Moorfields Eye Hospital, London, UK.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4901053PMC
January 2018

Recessive Retinopathy Consequent on Mutant G-Protein β Subunit 3 (GNB3).

JAMA Ophthalmol 2016 Aug;134(8):924-7

University College London Institute of Ophthalmology, London, England2Moorfields Eye Hospital, London, England.

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http://dx.doi.org/10.1001/jamaophthalmol.2016.1543DOI Listing
August 2016

Novel heterozygous mutation in YAP1 in a family with isolated ocular colobomas.

Ophthalmic Genet 2017 May-Jun;38(3):281-283. Epub 2016 Jun 7.

a Department of Ophthalmology , University of California, San Francisco , San Francisco , California , USA.

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http://dx.doi.org/10.1080/13816810.2016.1188122DOI Listing
November 2017

Molecular and Clinical Findings in Patients With Knobloch Syndrome.

JAMA Ophthalmol 2016 07;134(7):753-62

University College London Institute of Ophthalmology, London, England2Moorfields Eye Hospital, London, England6Koret Vision Center, Department of Ophthalmology, University of California, San Francisco.

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http://dx.doi.org/10.1001/jamaophthalmol.2016.1073DOI Listing
July 2016

Investigation of SLA4A3 as a candidate gene for human retinal disease.

J Negat Results Biomed 2016 May 23;15:11. Epub 2016 May 23.

Kennel Club Genetics Centre, Animal Health Trust, Newmarket, UK.

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http://dx.doi.org/10.1186/s12952-016-0054-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4876561PMC
May 2016