| # | Title | Journal | Year | Citations |
|---|
| 1 | A reference panel of 64,976 haplotypes for genotype imputation | Nature Genetics | 2016 | 2,421 |
| 2 | Efficacy and safety of voretigene neparvovec (AAV2-hRPE65v2) in patients with RPE65 -mediated inherited retinal dystrophy: a randomised, controlled, open-label, phase 3 trial | Lancet, The | 2017 | 1,250 |
| 3 | A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants | Nature Genetics | 2016 | 1,167 |
| 4 | Treatment of Leber Congenital Amaurosis Due toRPE65Mutations by Ocular Subretinal Injection of Adeno-Associated Virus Gene Vector: Short-Term Results of a Phase I Trial | Human Gene Therapy | 2008 | 880 |
| 5 | Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: a phase 1 dose-escalation trial | Lancet, The | 2009 | 774 |
| 6 | Human gene therapy for RPE65 isomerase deficiency activates the retinoid cycle of vision but with slow rod kinetics | Proceedings of the National Academy of Sciences of the United States of America | 2008 | 639 |
| 7 | Mutations in MERTK, the human orthologue of the RCS rat retinal dystrophy gene, cause retinitis pigmentosa | Nature Genetics | 2000 | 622 |
| 8 | Diabetic Retinopathy: A Position Statement by the American Diabetes Association | Diabetes Care | 2017 | 596 |
| 9 | Five-Year Outcomes with Anti–Vascular Endothelial Growth Factor Treatment of Neovascular Age-Related Macular Degeneration | Ophthalmology | 2016 | 541 |
| 10 | Consensus Definition for Atrophy Associated with Age-Related Macular Degeneration on OCT | Ophthalmology | 2018 | 485 |
| 11 | Risk of Geographic Atrophy in the Comparison of Age-related Macular Degeneration Treatments Trials | Ophthalmology | 2014 | 483 |
| 12 | Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate | Nature Genetics | 2000 | 439 |
| 13 | Consensus Nomenclature for Reporting Neovascular Age-Related Macular Degeneration Data | Ophthalmology | 2020 | 417 |
| 14 | Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia | Nature Genetics | 2013 | 398 |
| 15 | Safety and durability of effect of contralateral-eye administration of AAV2 gene therapy in patients with childhood-onset blindness caused by RPE65 mutations: a follow-on phase 1 trial | Lancet, The | 2016 | 377 |
| 16 | Molecular basis of glutamate toxicity in retinal ganglion cells | Vision Research | 1997 | 356 |
| 17 | The Evolutionary History of the Genus Acanthamoeba and the Identification of Eight New 18S rRNA Gene Sequence Types | Journal of Eukaryotic Microbiology | 1998 | 345 |
| 18 | Diabetic Retinopathy Preferred Practice Pattern® | Ophthalmology | 2020 | 341 |
| 19 | AAV2 Gene Therapy Readministration in Three Adults with Congenital Blindness | Science Translational Medicine | 2012 | 340 |
| 20 | Massive Light-Driven Translocation of Transducin between the Two Major Compartments of Rod Cells | Neuron | 2002 | 334 |
| 21 | Improvement and Decline in Vision with Gene Therapy in Childhood Blindness | New England Journal of Medicine | 2015 | 333 |
| 22 | Total colourblindness is caused by mutations in the gene encoding the α-subunit of the cone photoreceptor cGMP-gated cation channel | Nature Genetics | 1998 | 321 |
| 23 | Molecular mechanisms of vertebrate photoreceptor light adaptation | Current Opinion in Neurobiology | 1999 | 318 |
| 24 | Small interfering RNA (siRNA) targeting VEGF effectively inhibits ocular neovascularization in a mouse model | Molecular Vision | 2003 | 318 |
| 25 | The localization of nitric oxide synthase in the rat eye and related cranial ganglia | Neuroscience | 1993 | 292 |
| 26 | Pathology of human cystoid macular edema | Survey of Ophthalmology | 1984 | 270 |
| 27 | Reduced Foveolar Choroidal Blood Flow in Eyes with Increasing AMD Severity | Survey of Ophthalmology | 2005 | 269 |
| 28 | Baseline Predictors for One-Year Visual Outcomes with Ranibizumab or Bevacizumab for Neovascular Age-related Macular Degeneration | Ophthalmology | 2013 | 268 |
| 29 | Physiological Features of the S- and M-cone Photoreceptors of Wild-type Mice from Single-cell Recordings | Journal of General Physiology | 2006 | 261 |
| 30 | A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies | Nature Genetics | 2009 | 255 |
| 31 | Disease sequence from mutant rhodopsin allele to rod and cone photoreceptor degeneration in man | Proceedings of the National Academy of Sciences of the United States of America | 1998 | 251 |
| 32 | Mutations in the Cone-Rod Homeobox Gene Are Associated with the Cone-Rod Dystrophy Photoreceptor Degeneration | Neuron | 1997 | 250 |
| 33 | Identifying photoreceptors in blind eyes caused by RPE65 mutations: Prerequisite for human gene therapy success | Proceedings of the National Academy of Sciences of the United States of America | 2005 | 249 |
| 34 | Genetically engineered large animal model for studying cone photoreceptor survival and degeneration in retinitis pigmentosa | Nature Biotechnology | 1997 | 247 |
| 35 | Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive error | Nature Genetics | 2018 | 239 |
| 36 | Reversal of Blindness in Animal Models of Leber Congenital Amaurosis Using Optimized AAV2-mediated Gene Transfer | Molecular Therapy | 2008 | 236 |
| 37 | Risk of Scar in the Comparison of Age-related Macular Degeneration Treatments Trials | Ophthalmology | 2014 | 232 |
| 38 | Mutations in ABCA4 result in accumulation of lipofuscin before slowing of the retinoid cycle: a reappraisal of the human disease sequence | Human Molecular Genetics | 2004 | 231 |
| 39 | Phototransduction, Dark Adaptation, and Rhodopsin Regeneration The Proctor Lecture | Human Molecular Genetics | 2006 | 230 |
| 40 | In Vivo Human Choroidal Thickness Measurements: Evidence for Diurnal Fluctuations | Human Molecular Genetics | 2009 | 229 |
| 41 | Macular Morphology and Visual Acuity in the Comparison of Age-related Macular Degeneration Treatments Trials | Ophthalmology | 2013 | 226 |
| 42 | Cyclosporine for Ocular Inflammatory Diseases | Ophthalmology | 2010 | 225 |
| 43 | Laser Doppler flowmetry in the optic nerve | Experimental Eye Research | 1992 | 222 |
| 44 | Probing Mechanisms of Photoreceptor Degeneration in a New Mouse Model of the Common Form of Autosomal Dominant Retinitis Pigmentosa due to P23H Opsin Mutations | Journal of Biological Chemistry | 2011 | 221 |
| 45 | Foveolar choroidal blood flow in age-related macular degeneration | Investigative Ophthalmology and Visual Science | 1998 | 217 |
| 46 | Retinal Autoregulation in Open-angle Glaucoma | Ophthalmology | 1984 | 212 |
| 47 | Long-Term Protection of Retinal Structure but Not Function Using RAAV.CNTF in Animal Models of Retinitis Pigmentosa | Molecular Therapy | 2001 | 209 |
| 48 | Crumbs homolog 1 (CRB1) mutations result in a thick human retina with abnormal lamination | Human Molecular Genetics | 2003 | 205 |
| 49 | Immunohistochemical and Ultrastructural Studies on the Exenterated Orbital Tissues of a Patient with Graves' Disease | Ophthalmology | 1984 | 201 |
| 50 | Safety of Recombinant Adeno-Associated Virus Type 2–RPE65 Vector Delivered by Ocular Subretinal Injection | Molecular Therapy | 2006 | 196 |
