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1. ASCENSION IN KARL BARTH
by BURGESS, ANDREW
2004, BARTH STUDIES., ISBN 075463874X
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2. Full Text Retinal gene therapy in patients with choroideremia: Initial fi ndings from a phase 1/2 clinical trial
by MacLaren, Robert E and Groppe, Markus and Barnard, Alun R and Cottriall, Charles L and Tolmachova, Tanya and Seymour, Len and Reed Clark, K and During, Matthew J and Cremers, Frans P. M and Black, Graeme C. M and Lotery, Andrew J and Downes, Susan M and Webster, Andrew R and Seabra, Miguel C
The Lancet, ISSN 0140-6736, 2014, Volume 383, Issue 9923, pp. 1129 - 1137
Background Choroideremia is an X-linked recessive disease that leads to blindness due to mutations in the CHM gene, which encodes the Rab escort protein 1... 
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3. Full Text Phagosomal and mitochondrial alterations in RPE may contribute to KCNJ13 retinopathy
by Toms, Maria and Burgoyne, Thomas and Tracey-White, Dhani and Richardson, Rose and Dubis, Adam M and Webster, Andrew R and Futter, Clare and Moosajee, Mariya
Scientific Reports, ISSN 2045-2322, 12/2019, Volume 9, Issue 1, pp. 3793 - 15
Mutations in KCNJ13 are associated with two retinal disorders; Leber congenital amaurosis (LCA) and snowflake vitreoretinal degeneration (SVD). We examined the... 
INTRAVITREAL INJECTION | CELLS | OXIDATIVE STRESS | MULTIDISCIPLINARY SCIENCES | MELANOSOME DISTRIBUTION | GIANT MITOCHONDRIA | CHANNEL KIR7.1 | K+ CHANNEL | PHOTORECEPTOR DEGENERATION | EXPRESSION | RETINAL-PIGMENT EPITHELIUM | Hsp60 protein | Retinopathy | Therapeutic applications | Glial fibrillary acidic protein | Heat shock proteins | Retina | Superoxide dismutase | Epithelium | Electron microscopy | Organelles | Retinal pigment epithelium | Polymerase chain reaction | Mitochondria | Phenotyping | Blindness | Retinal degeneration
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4. Full Text Clinical and Molecular Characterization of Familial Exudative Vitreoretinopathy Associated With Microcephaly
by Hull, Sarah and Arno, Gavin and Ostergaard, Pia and Pontikos, Nikolas and Robson, Anthony G and Webster, Andrew R and Hogg, Chris R and Wright, Genevieve A and Henderson, Robert H.H and Martin, Carol-Anne and Jackson, Andrew P and Mansour, Sahar and Moore, Anthony T and Michaelides, Michel
American Journal of Ophthalmology, ISSN 0002-9394, 11/2019, Volume 207, pp. 87 - 98
Familial exudative vitreoretinopathy (FEVR) is a rare finding in patients with genetic forms of microcephaly. This study documents the detailed phenotype and... 
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5. Full Text Quantitative Analysis of Retinal Structure using Spectral Domain Optical Coherence Tomography in RPGR -associated Retinopathy
by Tee, James J.L.|Carroll, Joseph|Webster, Andrew R.|Michaelides, Michel
American Journal of Ophthalmology, ISSN 0002-9394, 2017, Volume 178, pp. 18 - 26
Abstract Purpose Quantification of retinal structure and progression using spectral-domain optical coherence tomography (SDOCT) in patients with retinitis... 
Ophthalmology | MUTATION ANALYSIS | GENE-MUTATIONS | OCT | BOUNDARIES | RP2 | FAMILIES | DISEASE | PHENOTYPE | OPHTHALMOLOGY | LINKED RETINITIS-PIGMENTOSA | PROGRESSION | Humans | Retinitis Pigmentosa - genetics | Genotype | Male | Tomography, Optical Coherence - methods | Visual Acuity | Disease Progression | Retinitis Pigmentosa - diagnosis | Adult | Female | Retrospective Studies | Eye Proteins - genetics | Mutation | Retina - pathology | Tomography | Analysis | Medical imaging | Photoreceptors | Retina | Gene therapy | Data bases | Index Medicus | Abridged Index Medicus | Original
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6. Full Text A Homozygous Mutation in the TUB Gene Associated with Retinal Dystrophy and Obesity
by Borman, Arundhati Dev and Pearce, Laura R and Mackay, Donna S and Nagel‐Wolfrum, Kerstin and Davidson, Alice E and Henderson, Robert and Garg, Sumedha and Waseem, Naushin H and Webster, Andrew R and Plagnol, Vincent and Wolfrum, Uwe and Farooqi, I. Sadaf and Moore, Anthony T
Human Mutation, ISSN 1059-7794, 03/2014, Volume 35, Issue 3, pp. 289 - 293
Inherited retinal dystrophies are a major cause of childhood blindness. Here, we describe the identification of a homozygous frameshift mutation... 
TUB | tubby | retinal dystrophy | cilia | obesity | Obesity | Retinal dystrophy | Tubby | Cilia | MOUSE | RECESSIVE MUTATIONS | TRAFFICKING | IDENTIFICATION | DEGENERATION | FAMILY | LEBER CONGENITAL AMAUROSIS | PROTEIN-1 | GENETICS & HEREDITY | RETINITIS-PIGMENTOSA | EXPRESSION | European Continental Ancestry Group - genetics | Frameshift Mutation | Humans | Homeostasis | Retinitis Pigmentosa - genetics | Male | United Kingdom | Chromosome Mapping | Genes, Recessive | Obesity - genetics | Proteins - genetics | Homozygote | Pedigree | Female | Consanguinity | Eye Proteins - genetics | Child | Retinal degeneration | Genetic aspects | Ophthalmology | Mutation | Index Medicus | Brief Reports
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7. Full Text Delineating the expanding phenotype associated with SCAPER gene mutation
by Fasham, James and Arno, Gavin and Lin, Siying and Xu, Mingchu and Carss, Keren J and Hull, Sarah and Lane, Amelia and Robson, Anthony G and Wenger, Olivia and Self, Jay E and Harlalka, Gaurav V and Salter, Claire G and Schema, Lynn and Moss, Timothy J and Cheetham, Michael E and Moore, Anthony T and Raymond, F. Lucy and Chen, Rui and Baple, Emma L and Webster, Andrew R and Crosby, Andrew H and NIHR Bioresource Rare Diseases Consortium
American Journal of Medical Genetics Part A, ISSN 1552-4825, 08/2019, Volume 179, Issue 8, pp. 1665 - 1671
Intellectual disability | CCNA2–CDK2 | Retinitis pigmentosa | SCAPER | Brachydactyly | Medical research | Gene mutations | Blindness | Genetic research | Medicine, Experimental | Genetic aspects | College administrators | Phenotypes | Point mutation | Index Medicus
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8. Full Text Retinopathy Associated with Biallelic Mutations in PYGM (McArdle Disease)
by Mahroo, Omar A and Khan, Kamron N and Wright, Genevieve and Ockrim, Zoe and Scalco, Renata S and Robson, Anthony G and Tufail, Adnan and Michaelides, Michel and Quinlivan, Ros and Webster, Andrew R
Ophthalmology, ISSN 0161-6420, 02/2019, Volume 126, Issue 2, pp. 320 - 322
OPHTHALMOLOGY | RETINAL-PIGMENT EPITHELIUM
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9. Full Text Prevalence of cystoid macular oedema, epiretinal membrane and cataract in retinitis pigmentosa
by Liew, Gerald and Strong, Stacey and Bradley, Patrick and Severn, Philip and Moore, Anthony T and Webster, Andrew R and Mitchell, Paul and Kifley, Annette and Michaelides, Michel
British Journal of Ophthalmology, ISSN 0007-1161, 08/2019, Volume 103, Issue 8, pp. 1163 - 1166
Background/AimsTo report the prevalence of treatable complications (cystoid macular oedema, CME; epiretinal membrane, ERM and cataract) in patients with... 
epidemiology | genetics | dystrophy | retina | macula | Cataracts | Edema | Respiratory distress syndrome | Retina | Gender | Males | Patients | Age | Index Medicus
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10. Full Text Retinal findings in a patient with mutations in ABCC6 and ABCA4
by Mahroo, Omar A and Fujinami, Kaoru and Moore, Anthony T and Webster, Andrew R
Eye (Basingstoke), ISSN 0950-222X, 09/2018, Volume 32, Issue 9, pp. 1542 - 1543
GENE | OPHTHALMOLOGY | DYSFUNCTION | Young Adult | ATP-Binding Cassette Transporters - genetics | Macular Degeneration - genetics | Humans | Male | Multidrug Resistance-Associated Proteins - genetics | Mutation | Retina - pathology | Macular Degeneration - pathology | Retina
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11. Full Text Unique noncoding variants upstream of PRDM13 are associated with a spectrum of developmental retinal dystrophies including progressive bifocal chorioretinal atrophy
by Silva, Raquel S and Arno, Gavin and Cipriani, Valentina and Pontikos, Nikolas and Defoort-Dhellemmes, Sabine and Kalhoro, Ambreen and Carss, Keren J and Raymond, F. Lucy and Dhaenens, Claire Marie and Jensen, Hanne and Rosenberg, Thomas and van Heyningen, Veronica and Moore, Anthony T and Puech, Bernard and Webster, Andrew R
Human Mutation, ISSN 1059-7794, 05/2019, Volume 40, Issue 5, pp. 578 - 587
The autosomal dominant progressive bifocal chorioretinal atrophy (PBCRA) disease locus has been mapped to chromosome 6q14-16.2 that overlaps the North Carolina... 
whole genome sequencing | NCMD | PRDM13 | macular dystrophy | macular development | PBCRA | GENE | GENETICS & HEREDITY | DUPLICATION | EXPRESSION | CAROLINA MACULAR DYSTROPHY | Nucleotide sequencing | Analysis | Genomics | DNA sequencing | Atrophy | Retina | Chromosome 6 | Genomes | Dystrophy
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12. Full Text Unilateral pigmentary retinopathy: a retrospective case series
by Errera, Marie‐Hélène and Robson, Anthony G and Wong, Tracey and Hykin, Philip G and Pal, Bishwanath and Sagoo, Mandeep S and Pavesio, Carlos E and Moore, Anthony T and Webster, Andrew R and MacLaren, Robert E and Holder, Graham E
Acta Ophthalmologica, ISSN 1755-375X, 06/2019, Volume 97, Issue 4, pp. e601 - e617
Purpose: To review the clinical characteristics and address the aetiology in a group of patients presenting with unilateral retinal pigmentary changes, best... 
unilateral pigmentary retinopathy | ERG | ocular trauma | uveitis | retina | AZOOR | ELECTRORETINOGRAPHY | ROD | ISCEV STANDARD | RETINAL DYSFUNCTION | IDENTIFICATION | ABNORMAL FUNDUS AUTOFLUORESCENCE | PATTERN | OPHTHALMOLOGY | OCCULT OUTER RETINOPATHY | RETINITIS-PIGMENTOSA | Visual Fields - physiology | Electroretinography - methods | Humans | Middle Aged | Male | Tomography, Optical Coherence - methods | Visual Acuity | Retinitis Pigmentosa - diagnosis | Young Adult | Retinal Cone Photoreceptor Cells - pathology | Adolescent | Adult | Female | Aged | Retrospective Studies | Retinitis Pigmentosa - physiopathology | Medicine, Experimental | Fluorescence | Medical research | Retinitis pigmentosa | Electroretinography | Retinopathy | Identification methods | Abnormalities | Electrophysiology | Cobalt oxides | Retina | Malignancy | Trauma | Patients | Electroretinograms | Pregnancy | Eye | Vasculitis | Ischemia | Meningitis | Eye (anatomy) | Genetics | Photographs | Retinitis | Dystrophy | Autoimmune diseases | Index Medicus
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13. Full Text Retinal gene therapy in patients with choroideremia: initial findings from a phase 1/2 clinical trial
by MacLaren, Robert E, Prof|Groppe, Markus, PhD|Barnard, Alun R, PhD|Cottriall, Charles L, PhD|Tolmachova, Tanya, PhD|Seymour, Len, Prof|Clark, K Reed, PhD|During, Matthew J, Prof|Cremers, Frans P M, Prof|Black, Graeme C M, Prof|Lotery, Andrew J, Prof|Downes, Susan M, FRCOphth|Webster, Andrew R, Prof|Seabra, Miguel C, Prof
Lancet, The, ISSN 0140-6736, 2014, Volume 383, Issue 9923, pp. 1129 - 1137
Summary Background Choroideremia is an X-linked recessive disease that leads to blindness due to mutations in the CHM gene, which encodes the Rab escort... 
Internal Medicine | MEDICINE, GENERAL & INTERNAL | MODELS | CLONING | DISEASE | CHM | MUTATIONS | LEBERS CONGENITAL AMAUROSIS | EXPRESSION | DEGENERATION | Choroideremia - physiopathology | Gene Transfer Techniques | Genetic Vectors - administration & dosage | Retinal Detachment - therapy | Humans | Middle Aged | Transgenes - genetics | Fluorescence | Male | Adaptor Proteins, Signal Transducing - genetics | Retinal Detachment - physiopathology | Adenoviridae - genetics | Adult | Aged | Choroideremia - therapy | Visual Acuity - physiology | Injections, Intraocular | Adaptor Proteins, Signal Transducing - administration & dosage | Genetic Therapy - methods | Care and treatment | Gene therapy | Patient outcomes | Choroideremia | Methods | Macular degeneration | Aging | Retina | Index Medicus | Abridged Index Medicus
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14. Association of C-Reactive Protein Genetic Polymorphisms With Late Age-Related Macular Degeneration
by Valentina Cipriani and Ruth E Hogg and Reecha Sofat and Anthony T Moore and Andrew R Webster and John R W Yates and Astrid E Fletcher
JAMA Ophthalmology, ISSN 2168-6165, 09/2017, Volume 135, Issue 9, p. 909
Importance: Fungal contamination and infection from donor tissues processed for endothelial keratoplasty is a growing concern, prompting analysis of donor... 
Temperature | Cornea |