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1. Full Text The Location of Exon 4 Mutations in RP1 Raises Challenges for Genetic Counseling and Gene Therapy
by Nanda, Anika and McClements, Michelle E and Clouston, Penny and Shanks, Morag E and MacLaren, Robert E
American Journal of Ophthalmology, ISSN 0002-9394, 06/2019, Volume 202, pp. 23 - 29
Mutations in the photoreceptor gene lead to recessive or dominantly inherited retinitis pigmentosa (RP). Since the dominantly inherited phenotype is generally... 
OPHTHALMOLOGY | RETINITIS | PROTEIN | Medical research | Genes | Amino acids | Genetic screening | Proteins | Genetic counseling | Hospitals | Medical genetics | Genetic research | Medicine, Experimental | Genetic aspects | Nucleotide sequencing | Gene therapy | DNA sequencing | Medical imaging | Family medical history | Patients | Consultants | Custom design | Tomography | Photoreceptors | Genetic engineering | Mutation | Age
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2. Full Text Macular spatial distribution of preserved autofluorescence in patients with choroideremia
by Hariri, Amir H and Ip, Michael S and Girach, Aniz and Lam, Byron L and Fischer, M. Dominik and Sankila, Eeva-Marja and Pennesi, Mark Edward and Holz, Frank G and Maclaren, Robert E and Birch, David G and Hoyng, Carel B and MacDonald, Ian M and Black, Graeme C and Tsang, Stephen H and Bressler, Neil M and Stepien, Kimberly E and Larsen, Michael and Gorin, Michael B and Meunier, Isabelle and Webster, Andrew R and Sadda, SriniVas and For Natural History of the Progression of Choroideremia (NIGHT) Study Group and Nat Hist Progression Choroideremia
British Journal of Ophthalmology, ISSN 0007-1161, 07/2019, Volume 103, Issue 7, pp. 933 - 937
Background/AimsTo better understand the pattern of degeneration progression in cases with choroideremia.MethodsA cohort of genotypically confirmed... 
preserved autofluorescence | retinal pigment epithelium | choroideremia | optical coherence tomography | fundus autofluorescence | ellipsoid zone | GENE | OPHTHALMOLOGY | RETINITIS-PIGMENTOSA | COHERENCE | THICKNESS | Studies | Proteins | Medical imaging | Retina | Mutation | Gene therapy | Variance analysis | Natural history
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3. Full Text Optimisation of dark adaptation time required for mesopic microperimetry
by Han, Ruofan Connie and Gray, Joanna Monika and Han, Jennie and Maclaren, Robert E and Jolly, Jasleen Kaur
British Journal of Ophthalmology, ISSN 0007-1161, 08/2019, Volume 103, Issue 8, pp. 1092 - 1098
BackgroundMacular Integrity Assessment (MAIA) microperimetry is increasingly used in clinical and research settings to assess point retinal sensitivity and... 
Cataracts | Photoreceptors | Retina | Topography | Index Medicus
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4. Full Text A detailed in vivo analysis of the retinal nerve fibre layer in choroideremia
by Fu, Dun J and Xue, Kanmin and Jolly, Jasleen K and MacLaren, Robert E
Acta Ophthalmologica, ISSN 1755-375X, 06/2019, Volume 97, Issue 4, pp. e589 - e600
Purpose Choroideremia is a currently incurable X-linked recessive retinal degeneration that leads to blindness. Gene therapy approaches to date target the... 
choroideremia | optical coherence tomography | retinal nerve fibre layer | peripapillary retinal nerve fibre layer | CELLS | THICKNESS MEASUREMENTS | GENE | OPHTHALMOLOGY | GLAUCOMATOUS EYES | GLIA | RETINITIS-PIGMENTOSA | REPRODUCIBILITY | Nerve Fibers - pathology | Reproducibility of Results | Choroideremia - diagnosis | Follow-Up Studies | Humans | Middle Aged | Male | Tomography, Optical Coherence - methods | Visual Acuity | Retinal Ganglion Cells - pathology | Young Adult | Adolescent | Adult | Female | Aged | Retrospective Studies | Child | Optic Disk - pathology | Automation | Segmentation | Retinitis pigmentosa | Imaging techniques | Cobalt oxides | Retina | Eye | Thickness | Image segmentation | Optical Coherence Tomography | Blindness | Retinal degeneration | Eye (anatomy) | Retinitis | Degeneration | Gene therapy | Index Medicus
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5. Full Text Comment: Gene Therapy for Age-related Macular Degeneration
by MacLaren, Robert E
Lancet (London, England), ISSN 0140-6736, 12/2015, Volume 386, Issue 10011, pp. 2369 - 2370
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6. Full Text Surgical Technique for Subretinal Gene Therapy in Humans with Inherited Retinal Degeneration
by Davis, Janet L and Gregori, Ninel Z and MacLaren, Robert E and Lam, Byron L
Retina, ISSN 0275-004X, 07/2019, p. 1
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7. Full Text Atypical choroideremia presenting with early‐onset macular atrophy
by Kontos, Georgios and Kwan, Jennifer and Xue, Kanmin and Patrício, Maria I and Clouston, Penny and Packham, Emily and MacLaren, Robert E and Downes, Susan M
Acta Ophthalmologica, ISSN 1755-375X, 09/2019, Volume 97, Issue 6, pp. 633 - 636
Choroideremia is an X-linked recessive retinal degeneration predominantly affecting hemizygous males. It is caused by mutations in the CHM gene that encodes... 
CHM | Rab escort protein‐1 | choroideremia | inherited retinal degeneration | Rab escort protein-1 | Macular degeneration | Medicine, Experimental | Medical research | Research institutes | Atrophy | Phenotypes | Retinal degeneration | Retina | Degeneration | Mutation | Nyctalopia | Males | Visual fields
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8. Full Text Using Rho Kinase Inhibitors for Retinal Detachment—Reply
by Simunovic, Matthew P and Xue, Kanmin and MacLaren, Robert E
JAMA Ophthalmology, ISSN 2168-6165, 08/2017, Volume 135, Issue 8, pp. 895 - 896
OPHTHALMOLOGY | FUNCTIONAL RECOVERY | Index Medicus | Abridged Index Medicus
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9. Full Text Emerging In Vitro 3D Tumour Models in Nanoparticle-Based Gene and Drug Therapy
by Wong, Joanna K and Seifalian, Amelia and Seifalian, Alexander M and Mohseni, Rashin and Hamidieh, Amir Ali and MacLaren, Robert E and Habib, Nagy
Trends in Biotechnology, ISSN 0167-7799, 05/2018, Volume 36, Issue 5, pp. 477 - 480
3D models are emerging as valuable tools for personalised nanoparticle-based cancer treatments. 3D models represent in vivo cancers more realistically than 2D... 
nanoparticle | gene therapy | drug delivery | 3D cancer model | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | Nanoparticles | Genetic Therapy | Humans | Neoplasms | Drugs | Medical colleges | Drug delivery systems | Analysis | Genes | Stem cells | Transplantation | Drug therapy | Cancer | Vehicles | Cell culture | Angiogenesis | Toxicology | Two dimensional models | Models | Gene therapy | Gene expression | Cancer therapies | Three dimensional models | Tumors | Index Medicus
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10. Olfactory Dysfunction in Patients With CNGB1-Associated Retinitis Pigmentosa
by Peter Charbel Issa and Peggy Reuter and Laura Kühlewein and Johannes Birtel and Martin Gliem and Anke Tropitzsch and Katherine L Whitcroft and Hanno J Bolz and Kenji Ishihara and Robert E MacLaren and Susan M Downes and Akio Oishi and Eberhart Zrenner and Susanne Kohl and Thomas Hummel
JAMA Ophthalmology, ISSN 2168-6165, 07/2018, Volume 136, Issue 7, p. 761
Importance Co-occurrence of retinitis pigmentosa (RP) and olfactory dysfunction may have a common genetic cause. Objective To report olfactory function and the... 
Neuroimaging | Retinitis pigmentosa | Anosmia | Retina | Nyctalopia | Genetic screening | Neurodegeneration | Coding | Sensory evaluation | Sensory neurons | Olfactory receptor neurons | Ophthalmology | Age | Phenotypes | EEG | Magnetic resonance imaging | Blindness | Phenotyping | Olfaction | Photoreceptors | Olfactory bulb | Retinitis | Dystrophy | Mutation | Odor
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11. Detailed Clinical Phenotype and Molecular Genetic Findings in CLN3-Associated Isolated Retinal Degeneration
by Cristy A Ku and Sarah Hull and Gavin Arno and Ajoy Vincent and Keren Carss and Robert Kayton and Douglas Weeks and Glenn W Anderson and Ryan Geraets and Camille Parker and David A Pearce and Michel Michaelides and Robert E MacLaren and Anthony G Robson and Graham E Holder and Elise Heon and F Lucy Raymond and Anthony T Moore and Andrew R Webster and Mark E Pennesi
JAMA Ophthalmology, ISSN 2168-6165, 07/2017, Volume 135, Issue 7, p. 749
Importance Mutations in genes traditionally associated with syndromic retinal disease are increasingly found to cause nonsyndromic inherited retinal... 
Edema | Leukocyte migration | Transcription | Preservation | Electrophysiology | Retina | Genomes | Electron microscopy | Eye | Polymerase chain reaction | Atrophy | Genotype & phenotype | Molecules | Visual impairment | Neurodegeneration | Lymphocytes | Retinal degeneration | Genetics | Neuronal ceroid lipofuscinosis | Dystrophy | Age
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12. Full Text Potential lifetime quality of life benefits of choroideremia gene therapy: projections from a clinically informed decision model
by Halioua-Haubold, Celine-Lea and Jolly, Jasleen K and Smith, James A and Pinedo-Villanueva, Rafael and Brindley, David A and MacLaren, Robert E
Eye, ISSN 0950-222X, 08/2019, Volume 33, Issue 8, pp. 1215 - 1223
Learning Objectives Upon completion of this activity, participants will be able to:1. Describe the estimated lifetime benefit of gene therapy for the retinal... 
Young adults | Advisors | Clinical trials | Medical education | Retinal degeneration | Retina | Accreditation | Dystrophy | Gene therapy | Patients | Quality of life | Acuity | Index Medicus
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13. Full Text Novel non-sense mutation in RP2 (c.843_844insT/p.Arg282fs) is associated with a severe phenotype of retinitis pigmentosa without evidence of primary retinal pigment epithelium involvement
by Horner, Faye and Wawrzynski, James and MacLaren, Robert E
BMJ Case Reports, ISSN 1757-790X, 05/2019, Volume 12, Issue 5, p. e224451
Retinitis pigmentosa (RP) relates to a heterogeneous group of rod-cone dystrophies of varying genetic aetiology. There is currently great interest in gene... 
Atrophy | Proteins | Diabetic retinopathy | Genes | Tomography | Photoreceptors | Optics | Retina | Family medical history | Mutation | Bioinformatics | Age
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14. Full Text Benefits of gene therapy for both eyes
by MacLaren, Robert E
Lancet, The, ISSN 0140-6736, 2016, Volume 388, Issue 10045, pp. 635 - 636
To link to full-text access for this article, visit this link: http://dx.doi.org/10.1016/S0140-6736(16)30783-8 Byline: Robert E MacLaren Author Affiliation:... 
Internal Medicine | MEDICINE, GENERAL & INTERNAL | LEBERS CONGENITAL AMAUROSIS | DELIVERY | Genetic Therapy | Genetic Vectors | Visual Acuity | Humans | Genetic research | Gene therapy | Retina | Genomes | Congenital diseases | Blindness | Index Medicus | Abridged Index Medicus
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15. Full Text Exploring the variable phenotypes of RPGR carrier females in assessing their potential for retinal gene therapy
by Nanda, Anika and Salvetti, Anna P and Clouston, Penny and Downes, Susan M and Maclaren, Robert E
Genes, ISSN 2073-4425, 12/2018, Volume 9, Issue 12, p. 643
Inherited retinal degenerations are the leading cause of blindness in the working population. X-linked retinitis pigmentosa (XLRP), caused by mutations in the... 
X-inactivation | Female carriers | Inherited retinal degeneration | Skewed X-inactivation | Retinitis pigmentosa | X-linked retinitis pigmentosa | Pigmentary retinopathy | Retinitis pigmentosa GTPase regulator gene (RPGR) | Gene therapy | skewed X-inactivation | gene therapy | INACTIVATION | pigmentary retinopathy | female carriers | VISUAL FUNCTION | RP2 | FAMILIES | retinitis pigmentosa GTPase regulator gene (RPGR) | GENETICS & HEREDITY | retinitis pigmentosa | inherited retinal degeneration
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16. Full Text Assessment of cone survival in response to CNTF, GDNF, and VEGF 165b in a novel ex vivo model of end-stage retinitis pigmentosa
by Lipinski, Daniel M and Singh, Mandeep S and MacLaren, Robert E
Investigative Ophthalmology and Visual Science, ISSN 0146-0404, 09/2011, Volume 52, Issue 10, pp. 7340 - 7346
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17. Full Text Outcome of full-thickness macular hole surgery in choroideremia
by Talib, Mays and Koetsier, Leonoor S and Maclaren, Robert E and Boon, Camiel J. F
Genes, ISSN 2073-4425, 07/2017, Volume 8, Issue 7, p. 187
The development of a macular hole is relatively common in retinal dystrophies eligible for gene therapy such as choroideremia. However, the subretinal delivery... 
CHM | Vitrectomy | Macular hole | Choroideremia | macular hole | vitrectomy | choroideremia | GENETICS & HEREDITY
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18. Full Text Gene therapy for age-related macular degeneration
by MacLaren, Robert E
Lancet, The, ISSN 0140-6736, 2015, Volume 386, Issue 10011, pp. 2369 - 2370
  In age-related macular degeneration the ideal goal would be to prevent the disease altogether using AAV gene therapy, possibly by correcting genes encoding... 
Internal Medicine | NONHUMAN-PRIMATES | MEDICINE, GENERAL & INTERNAL | RETINA | DELIVERY | Wet Macular Degeneration - therapy | Female | Male | Vascular Endothelial Growth Factor Receptor-1 - administration & dosage | Humans | Genetic Therapy - methods | Macular degeneration | Physiological aspects | Care and treatment | Gene therapy | Proteins | Cytomegalovirus | Clinical trials | Kinases | Gene expression | Age | Index Medicus | Abridged Index Medicus
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19. 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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20. Ocular gene therapy for choroideremia: clinical trials and future perspectives
by Xue, Kanmin and MacLaren, Robert E
Expert Review of Ophthalmology, ISSN 1746-9899, 05/2018, Volume 13, Issue 3, pp. 129 - 138
Gene therapy offers the potential for targeted replacement of single gene defects in inherited retinal degenerations. Choroideremia is an X-linked blinding... 
CHM | gene therapy | REP1 | adeno-associated virus | choroideremia | AAV
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