Anthony T Moore

Anthony T Moore

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Anthony T Moore

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

Am J Ophthalmol 2019 Nov 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

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

Br J Ophthalmol 2019 Aug 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

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

PHENOTYPIC HETEROGENEITY IN A FAMILY WITH X-LINKED FAMILIAL EXUDATIVE VITREORETINOPATHY WITH PREVENTION OF VISUAL LOSS IN AN AFFECTED MALE CHILD WITH LASER TREATMENT IN INFANCY.

Retin Cases Brief Rep 2018 Aug 1. Epub 2018 Aug 1.

Ophthalmology Department, University of California School of Medicine, San Francisco, Koret Vision Research Center, San Francisco, California.

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http://dx.doi.org/10.1097/ICB.0000000000000796DOI Listing
August 2018

Cobalamin D Deficiency Identified Through Newborn Screening.

JIMD Rep 2019 11;44:73-77. Epub 2018 Aug 11.

Division of Medical Genetics, Department of Pediatrics, University of California, San Francisco, San Francisco, CA, USA.

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http://dx.doi.org/10.1007/8904_2018_126DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6323031PMC
August 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

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

Bullous X linked retinoschisis: clinical features and prognosis.

Br J Ophthalmol 2018 05 28;102(5):622-624. Epub 2017 Aug 28.

Medical Retina and Genetics Services, Moorfields Eye Hospital, London, UK.

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http://bjo.bmj.com/lookup/doi/10.1136/bjophthalmol-2017-3105
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http://dx.doi.org/10.1136/bjophthalmol-2017-310593DOI Listing
May 2018

Early Patterns of Macular Degeneration in ABCA4-Associated Retinopathy.

Ophthalmology 2018 05 6;125(5):735-746. Epub 2018 Jan 6.

Department of Genetics, University College London Institute of Ophthalmology, University College London, London, United Kingdom; Medical Retina Service, Moorfields Eye Hospital, London, United Kingdom. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S01616420173253
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http://dx.doi.org/10.1016/j.ophtha.2017.11.020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5917070PMC
May 2018

Active surveillance of choroidal neovascularisation in children: incidence, aetiology and management findings from a national study in the UK.

Br J Ophthalmol 2018 04 26;102(4):438-443. Epub 2017 Aug 26.

Department of Paediatric Ophthalmology, Moorfields Eye Hospital NHS Foundation Trust, London, UK.

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http://dx.doi.org/10.1136/bjophthalmol-2017-310445DOI Listing
April 2018

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

Am J Ophthalmol 2018 04 5;188:123-130. Epub 2018 Feb 5.

Moorfields Eye Hospital NHS Foundation Trust and UCL Institute of Ophthalmology, University College London, London, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/j.ajo.2018.01.029DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5873517PMC
April 2018

THE FUNDUS PHENOTYPE ASSOCIATED WITH THE p.Ala243Val BEST1 MUTATION.

Retina 2018 Mar;38(3):606-613

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

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http://Insights.ovid.com/crossref?an=00006982-201803000-0002
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http://dx.doi.org/10.1097/IAE.0000000000001569DOI Listing
March 2018

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

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

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

High-resolution Imaging in Male Germ Cell-Associated Kinase (MAK)-related Retinal Degeneration.

Am J Ophthalmol 2018 Jan 16;185:32-42. Epub 2017 Nov 16.

Department of Ophthalmology, University of California, San Francisco, San Francisco, California. Electronic address:

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http://dx.doi.org/10.1016/j.ajo.2017.10.023DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5732075PMC
January 2018

Vitamin A deficiency due to bi-allelic mutation of RBP4: There's more to it than meets the eye.

Ophthalmic Genet 2017 Sep-Oct;38(5):465-466. Epub 2016 Nov 28.

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

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http://dx.doi.org/10.1080/13816810.2016.1227453DOI Listing
December 2017

Inner retinal dystrophy in a patient with biallelic sequence variants in BRAT1.

Ophthalmic Genet 2017 12 2;38(6):559-561. Epub 2017 Mar 2.

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

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http://dx.doi.org/10.1080/13816810.2017.1290118DOI Listing
December 2017

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

Revesz syndrome masquerading as traumatic retinal detachment.

J AAPOS 2017 Oct 1;21(5):422-425.e1. Epub 2017 Sep 1.

Department of Ophthalmology, University of California, San Francisco. Electronic address:

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http://dx.doi.org/10.1016/j.jaapos.2017.04.016DOI Listing
October 2017

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

Genetic Testing for Inherited Retinal Disease.

Authors:
Anthony T Moore

Ophthalmology 2017 09;124(9):1254-1255

San Francisco, California. Electronic address:

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http://dx.doi.org/10.1016/j.ophtha.2017.06.018DOI Listing
September 2017

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

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

Clinical utility gene card for: Non-Syndromic Microphthalmia Including Next-Generation Sequencing-Based Approaches.

Eur J Hum Genet 2017 04 18;25(4). Epub 2017 Jan 18.

Department of Ocular Biology and Therapeutics, UCL Institute of Ophthalmology, London, UK.

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http://dx.doi.org/10.1038/ejhg.2016.201DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5386421PMC
April 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

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

Ocular findings in a patient with fucosidosis.

Am J Ophthalmol Case Rep 2016 Dec 13;4:83-86. Epub 2016 Oct 13.

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

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http://dx.doi.org/10.1016/j.ajoc.2016.10.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5757485PMC
December 2016

Ophthalmomyiasis interna masquerading as orbital cellulitis.

J AAPOS 2016 12 31;20(6):546-548.e2. Epub 2016 Oct 31.

Moorfields Eye Hospital NHS Foundation Trust, London, England; UCSF Benioff Children's Hospital, UCSF Medical Center (Mission Bay), San Francisco, California.

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http://dx.doi.org/10.1016/j.jaapos.2016.07.228DOI Listing
December 2016

The ophthalmic presentation of Hermansky-Pudlak syndrome 6.

Br J Ophthalmol 2016 Nov 28;100(11):1521-1524. Epub 2016 Jan 28.

University College London Institute of Ophthalmology, London, UK.

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http://dx.doi.org/10.1136/bjophthalmol-2015-308067DOI Listing
November 2016

Preserved visual function in retinal dystrophy due to hypomorphic mutations.

Br J Ophthalmol 2016 Nov 23;100(11):1499-1505. Epub 2016 Feb 23.

UCL Institute of Ophthalmology, London, UK.

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http://dx.doi.org/10.1136/bjophthalmol-2015-308019DOI Listing
November 2016

The New Pretender: A Large UK Case Series of Retinal Injuries in Children Secondary to Handheld Lasers.

Am J Ophthalmol 2016 Nov 31;171:88-94. Epub 2016 Aug 31.

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

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http://dx.doi.org/10.1016/j.ajo.2016.08.027DOI 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

Clinical and Genetic Features of Choroideremia in Childhood.

Ophthalmology 2016 10 6;123(10):2158-65. Epub 2016 Aug 6.

University College London Institute of Ophthalmology, University College London, London, United Kingdom; Medical Retina Service, Moorfields Eye Hospital, London, United Kingdom.

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http://dx.doi.org/10.1016/j.ophtha.2016.06.051DOI Listing
October 2016

Unilateral BEST1-Associated Retinopathy.

Am J Ophthalmol 2016 Sep 7;169:24-32. Epub 2016 Jun 7.

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

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http://linkinghub.elsevier.com/retrieve/pii/S000293941630263
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http://dx.doi.org/10.1016/j.ajo.2016.05.024DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5016077PMC
September 2016

Unusual Retinal Vascular Proliferation in von Hippel-Lindau Disease.

JAMA Ophthalmol 2016 09;134(9):1073-4

UCL Institute of Ophthalmology, London, United Kingdom.

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http://dx.doi.org/10.1001/jamaophthalmol.2016.2046DOI 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

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

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

Lamination of the Outer Plexiform Layer in Optic Atrophy Caused by Dominant WFS1 Mutations.

Ophthalmology 2016 07 10;123(7):1624-6. Epub 2016 Feb 10.

Moorfields Eye Hospital and UCL Institute of Ophthalmology, London, UK; Newcastle Eye Centre, Royal Victoria Infirmary, Newcastle upon Tyne, UK; Wellcome Trust Centre for Mitochondrial Research, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.

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http://dx.doi.org/10.1016/j.ophtha.2016.01.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6558247PMC
July 2016

Differentiating drusen: Drusen and drusen-like appearances associated with ageing, age-related macular degeneration, inherited eye disease and other pathological processes.

Prog Retin Eye Res 2016 07 10;53:70-106. Epub 2016 May 10.

University College London, Institute of Ophthalmology, 11-43 Bath Street, London EC1V 9EL, UK; Medical Retina Service, Moorfields Eye Hospital, 162 City Road, London EC1V 2PD, UK; Department of Ophthalmology, UCSF School of Medicine, San Francisco, CA 94143, USA.

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http://dx.doi.org/10.1016/j.preteyeres.2016.04.008DOI Listing
July 2016

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

PAX6, brain structure and function in human adults: advanced MRI in aniridia.

Ann Clin Transl Neurol 2016 05 12;3(5):314-30. Epub 2016 Apr 12.

Department of Clinical and Experimental Epilepsy UCL Institute of Neurology National Hospital for Neurology and Neurosurgery London WC1N 3BG United Kingdom; Epilepsy Society Chalfont-St-Peter Bucks SL9 0RJ United Kingdom.

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http://dx.doi.org/10.1002/acn3.297DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4863745PMC
May 2016

Selective Automated Perimetry Under Photopic, Mesopic, and Scotopic Conditions: Detection Mechanisms and Testing Strategies.

Transl Vis Sci Technol 2016 May 20;5(3):10. Epub 2016 May 20.

Nuffield Laboratory of Ophthalmology, Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford OX3 9DU, UK ; Oxford Eye Hospital, Oxford University Hospitals NHS Trust, Oxford OX3 9DU, UK ; Moorfields Eye Hospital, 162 City Road, London EC1V 2PD, UK.

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http://dx.doi.org/10.1167/tvst.5.3.10DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4884057PMC
May 2016

Ocular and neurodevelopmental features of Duchenne muscular dystrophy: a signature of dystrophin function in the central nervous system.

Eur J Hum Genet 2016 Apr 17;24(4):562-8. Epub 2015 Jun 17.

Clinical and Academic Department of Ophthalmology, Great Ormond Street Hospital for Children, London, UK.

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http://dx.doi.org/10.1038/ejhg.2015.135DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4929863PMC
April 2016

Mutations in CACNA2D4 Cause Distinctive Retinal Dysfunction in Humans.

Ophthalmology 2016 Mar 7;123(3):668-71.e2. Epub 2015 Nov 7.

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

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http://dx.doi.org/10.1016/j.ophtha.2015.09.045DOI Listing
March 2016

Nonsyndromic Retinal Dystrophy due to Bi-Allelic Mutations in the Ciliary Transport Gene IFT140.

Invest Ophthalmol Vis Sci 2016 Mar;57(3):1053-62

University College London Institute of Ophthalmology, London, United Kingdom 2Moorfields Eye Hospital, London, United Kingdom 12Ophthalmology, University of California, San Francisco, California, United States.

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http://dx.doi.org/10.1167/iovs.15-17976DOI Listing
March 2016

A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants.

Authors:
Lars G Fritsche Wilmar Igl Jessica N Cooke Bailey Felix Grassmann Sebanti Sengupta Jennifer L Bragg-Gresham Kathryn P Burdon Scott J Hebbring Cindy Wen Mathias Gorski Ivana K Kim David Cho Donald Zack Eric Souied Hendrik P N Scholl Elisa Bala Kristine E Lee David J Hunter Rebecca J Sardell Paul Mitchell Joanna E Merriam Valentina Cipriani Joshua D Hoffman Tina Schick Yara T E Lechanteur Robyn H Guymer Matthew P Johnson Yingda Jiang Chloe M Stanton Gabriëlle H S Buitendijk Xiaowei Zhan Alan M Kwong Alexis Boleda Matthew Brooks Linn Gieser Rinki Ratnapriya Kari E Branham Johanna R Foerster John R Heckenlively Mohammad I Othman Brendan J Vote Helena Hai Liang Emmanuelle Souzeau Ian L McAllister Timothy Isaacs Janette Hall Stewart Lake David A Mackey Ian J Constable Jamie E Craig Terrie E Kitchner Zhenglin Yang Zhiguang Su Hongrong Luo Daniel Chen Hong Ouyang Ken Flagg Danni Lin Guanping Mao Henry Ferreyra Klaus Stark Claudia N von Strachwitz Armin Wolf Caroline Brandl Guenther Rudolph Matthias Olden Margaux A Morrison Denise J Morgan Matthew Schu Jeeyun Ahn Giuliana Silvestri Evangelia E Tsironi Kyu Hyung Park Lindsay A Farrer Anton Orlin Alexander Brucker Mingyao Li Christine A Curcio Saddek Mohand-Saïd José-Alain Sahel Isabelle Audo Mustapha Benchaboune Angela J Cree Christina A Rennie Srinivas V Goverdhan Michelle Grunin Shira Hagbi-Levi Peter Campochiaro Nicholas Katsanis Frank G Holz Frédéric Blond Hélène Blanché Jean-François Deleuze Robert P Igo Barbara Truitt Neal S Peachey Stacy M Meuer Chelsea E Myers Emily L Moore Ronald Klein Michael A Hauser Eric A Postel Monique D Courtenay Stephen G Schwartz Jaclyn L Kovach William K Scott Gerald Liew Ava G Tan Bamini Gopinath John C Merriam R Theodore Smith Jane C Khan Humma Shahid Anthony T Moore J Allie McGrath Reneé Laux Milam A Brantley Anita Agarwal Lebriz Ersoy Albert Caramoy Thomas Langmann Nicole T M Saksens Eiko K de Jong Carel B Hoyng Melinda S Cain Andrea J Richardson Tammy M Martin John Blangero Daniel E Weeks Bal Dhillon Cornelia M van Duijn Kimberly F Doheny Jane Romm Caroline C W Klaver Caroline Hayward Michael B Gorin Michael L Klein Paul N Baird Anneke I den Hollander Sascha Fauser John R W Yates Rando Allikmets Jie Jin Wang Debra A Schaumberg Barbara E K Klein Stephanie A Hagstrom Itay Chowers Andrew J Lotery Thierry Léveillard Kang Zhang Murray H Brilliant Alex W Hewitt Anand Swaroop Emily Y Chew Margaret A Pericak-Vance Margaret DeAngelis Dwight Stambolian Jonathan L Haines Sudha K Iyengar Bernhard H F Weber Gonçalo R Abecasis Iris M Heid

Nat Genet 2016 Feb 21;48(2):134-43. Epub 2015 Dec 21.

Department of Genetic Epidemiology, University of Regensburg, Regensburg, Germany.

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http://dx.doi.org/10.1038/ng.3448DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4745342PMC
February 2016

Retinal Architecture in ​RGS9- and ​R9AP-Associated Retinal Dysfunction (Bradyopsia).

Am J Ophthalmol 2015 Dec 3;160(6):1269-1275.e1. Epub 2015 Sep 3.

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

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http://dx.doi.org/10.1016/j.ajo.2015.08.032DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4653116PMC
December 2015

Electroretinogram assessment of children with sensorineural hearing loss: implications for screening.

J AAPOS 2015 Oct;19(5):450-4

Department of Ophthalmology, Royal London Hospital, Barts NHS Health Trust, London, United Kingdom; Moorfields Eye Hospital, London, United Kingdom.

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http://dx.doi.org/10.1016/j.jaapos.2015.08.001DOI Listing
October 2015

Predominantly Cone-System Dysfunction as Rare Form of Retinal Degeneration in Patients With Molecularly Confirmed Bardet-Biedl Syndrome.

Am J Ophthalmol 2015 Aug 15;160(2):364-372.e1. Epub 2015 May 15.

Service de Génétique Médicale, Institut de Génétique Médicale d'Alsace, Centre de Référence pour les Affections Rares en Génétique Ophtalmologique (CARGO), Strasbourg, France; Laboratoire de Génétique Médicale, Institut de Génétique Médicale d'Alsace, INSERM U1112, Faculté de Médecine, Université de Strasbourg, Strasbourg, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajo.2015.05.007DOI Listing
August 2015

Somatic mosaicism of a novel IKBKG mutation in a male patient with incontinentia pigmenti.

Am J Med Genet A 2015 Jul 5;167(7):1601-4. Epub 2015 May 5.

Inherited Eye Diseases, UCL Institute of Ophthalmology, London, United Kingdom.

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http://dx.doi.org/10.1002/ajmg.a.37004DOI Listing
July 2015

Handheld OCT Comes of Age.

Authors:
Anthony T Moore

Invest Ophthalmol Vis Sci 2015 Jul;56(8):4546

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http://dx.doi.org/10.1167/iovs.15-17350DOI Listing
July 2015

Intraoperative fluorescein angiography-guided treatment in children with early Coats' disease.

Ophthalmology 2015 Jun 29;122(6):1195-202. Epub 2015 Mar 29.

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

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http://dx.doi.org/10.1016/j.ophtha.2015.02.002DOI Listing
June 2015

Long-term effect of gene therapy on Leber's congenital amaurosis.

N Engl J Med 2015 May 4;372(20):1887-97. Epub 2015 May 4.

From the UCL (University College London) Institute of Ophthalmology (J.W.B.B., M.S.M., V.S., S.J.R., S.E.B., C.R., A.G., F.M.M., S.G.B., P.J.G., V.A.L., K.B., A.V., G.E.H., F.W.F., M.N., A.T.M., M.M., A.S., A.J.S., G.R., R.R.A.) and the Department of Civil, Environmental, and Geomatic Engineering (N.T.), UCL, and Moorfields Eye Hospital (J.W.B.B., M.S.M., V.S., S.J.R., A.G., K.B., G.H., A.M., M.M.), London, and the Department of Psychology, Durham University, Durham (M.N.) - all in the United Kingdom; the College of Veterinary Medicine, Michigan State University, East Lansing (F.M.M., S.M.P.-J.), and the Kellogg Eye Center, University of Michigan Medical School, Ann Arbor (K.L.F., D.A.T., R.R.A.); the Center for Human Genetics, KU Leuven (T.J.L.R.), and the Department of Ophthalmology, UZ Leuven, Campus Sint-Rafaël (I.C.) - both in Leuven, Belgium; Rotterdam Eye Hospital, Rotterdam, the Netherlands (S.Y., L.I.B.); and the Oregon Retinal Degeneration Center, Ophthalmic Genetics Service, Casey Eye Institute, Oregon Health and Science University, Portland (R.G.W.).

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http://dx.doi.org/10.1056/NEJMoa1414221DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4497809PMC
May 2015

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

Invest Ophthalmol Vis Sci 2015 Apr;56(4):2358-65

UCL Institute of Ophthalmology, London, United Kingdom 2Moorfields Eye Hospital, London, United Kingdom 4Ophthalmology Department, Great Ormond Street Hospital for Children NHS Trust, London, United Kingdom 5Department of Ophthalmology, University of Cali.

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http://dx.doi.org/10.1167/iovs.15-16520DOI Listing
April 2015

Author reply: To PMID 24480711.

Ophthalmology 2015 Apr;122(4):e22

Moorfields Eye Hospital, London, UK; University College London, Institute of Ophthalmology, Bath Street, London, UK.

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http://dx.doi.org/10.1016/j.ophtha.2014.08.041DOI Listing
April 2015

Mutations in TUBGCP4 alter microtubule organization via the γ-tubulin ring complex in autosomal-recessive microcephaly with chorioretinopathy.

Am J Hum Genet 2015 Apr 26;96(4):666-74. Epub 2015 Mar 26.

Medical Genetics Laboratory, INSERM U1112, Institute of Genetics and Medicine of Alsace, Strasbourg Medical School, University of Strasbourg, 67085 Strasbourg, France; Centre de Référence National pour les Affections Rares en Génétique Ophtalmologique, Hôpitaux Universitaires de Strasbourg, 67091 Strasbourg, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2015.02.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4385181PMC
April 2015