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1. Full Text Inherited Retinal Degeneration: Genetics, Disease Characterization, and Outcome Measures
by Khan, Naheed W and Falsini, Benedetto and Kondo, Mineo and Robson, Anthony G
Journal of Ophthalmology, ISSN 2090-004X, 2017, Volume 2017, pp. 2109014 - 2
MEDICINE, RESEARCH & EXPERIMENTAL | OPHTHALMOLOGY | Retinal degeneration | Care and treatment | Genetic aspects | Diagnosis | Research | Patient outcomes
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2. Full Text A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies
by Khanna, H and Davis, E.E and Murga-Zamalloa, C.A and Estrada-Cuzcano, A and Lopez, I and Hollander, A.I. den and Zonneveld-Vrieling, M.N and Othman, M.I and Waseem, N and Chakarova, C and Maubaret, C and Diaz-Font, A and Macdonald, I and Muzny, D.M and Wheeler, D.A and Morgan, M and Lewis, L.R and Logan, C.V and Tan, P.L and Beer, M.A and Inglehearn, C.F and Lewis, R.A and Jacobson, S.G and Bergmann, C and Beales, P.L and Attie-Bitach, T and Johnson, C.A and Otto, E.A and Bhattacharya, S.S and Hildebrandt, F and Gibbs, R.A and Koenekoop, R.K and Swaroop, A and Katsanis, N
Nature Genetics, ISSN 1061-4036, 2009, Volume 41, Issue 6, pp. 739 - 745
Despite rapid advances in the identification of genes involved in disease, the predictive power of the genotype remains limited, in part owing to poorly... 
JOUBERT-SYNDROME | MUTATION ANALYSIS | CILIARY | LEBER CONGENITAL AMAUROSIS | GENE | MECKEL-SYNDROME | GENETICS & HEREDITY | BARDET-BIEDL-SYNDROME | EARLY-ONSET | LINKED RETINITIS-PIGMENTOSA | CENTROSOMAL PROTEIN | Retinal Degeneration - genetics | Humans | RNA, Messenger - genetics | Europe - epidemiology | Retinitis Pigmentosa - genetics | Retinal Degeneration - prevention & control | Zebrafish - genetics | Genetic Variation | Retinitis Pigmentosa - enzymology | Animals | GTP Phosphohydrolases - metabolism | Ciliary Body - physiopathology | Retinal Degeneration - epidemiology | GTP Phosphohydrolases - genetics | Adaptor Proteins, Signal Transducing - genetics | Alleles | Uveitis - epidemiology | Bardet-Biedl Syndrome - genetics | Polymorphism, Single Nucleotide | Mutation | Uveitis - genetics | Allelomorphism | Retinal degeneration | Physiological aspects | Genetic aspects | Research | Gene mutations | Studies | Genetics | Retina | Biomedical research | Index Medicus
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3. Full Text Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC)
by Benjamin M. Neale and Jesen Fagerness and Robyn Reynolds and Lucia Sobrin and Margaret Parker and Soumya Raychaudhuri and Perciliz L. Tan and Edwin C. Oh and Joanna E. Merriam and Eric Souied and Paul S. Bernstein and Binxing Li and Jeanne M. Frederick and Kang Zhang and Milam A. Brantley and Aaron Y. Lee and Donald J. Zack and Betsy Campochiaro and Peter Campochiaro and Stephan Ripke and R. Theodore Smith and Gaetano R. Barile and Nicholas Katsanis and Rando Allikmets and Mark J. Daly and Johanna M. Seddon and Mark T. Keating
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 4/2010, Volume 107, Issue 16, pp. 7395 - 7400
Advanced age-related macular degeneration (AMD) is the leading cause of late onset blindness. We present results of a genome-wide association study of 979... 
Macular degeneration | Medical research | HDL lipoproteins | Alleles | Medical genetics | Genetic research | Genetic loci | Retina | Ophthalmology | Chromosomes | Retinal degeneration | HDL | Complex disease | Lipid pathway | retinal degeneration | MULTIDISCIPLINARY SCIENCES | SUSCEPTIBILITY | INCREASES | RISK | POWER | POLYMORPHISM | VARIANT | COMPLEMENT FACTOR-H | complex disease | HAPLOTYPE | PROMOTER | LINKAGE | lipid pathway | Genome-Wide Association Study | Oligonucleotide Array Sequence Analysis | Cholesterol, HDL - metabolism | Humans | Gene Expression Regulation | Lipase - physiology | Genotype | Risk | Reverse Transcriptase Polymerase Chain Reaction | Tissue Inhibitor of Metalloproteinase-3 - antagonists & inhibitors | Case-Control Studies | Lipids - chemistry | Macular Degeneration - genetics | Polymorphism, Single Nucleotide | Lipase - genetics | Genomics | Development and progression | Genetic aspects | Research | Lipase | Properties | Genetic screening | Methods | Studies | Lipoproteins | Blindness | Genetics | Gene expression | Polymorphism | Index Medicus | Biological Sciences
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4. Full Text A Variant of Mitochondrial Protein LOC387715/ ARMS2, Not HTRA1, Is Strongly Associated with Age-Related Macular Degeneration
by Atsuhiro Kanda and Wei Chen and Mohammad Othman and Kari E. H. Branham and Matthew Brooks and Ritu Khanna and Shirley He and Robert Lyons and Gonçalo R. Abecasis and Anand Swaroop
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 10/2007, Volume 104, Issue 41, pp. 16227 - 16232
Genetic variants at chromosomes 1q31-32 and 10q26 are strongly associated with susceptibility to age-related macular degeneration (AMD), a common blinding... 
COS cells | Macular degeneration | Mitochondria | Reverse transcriptase polymerase chain reaction | Cell lines | Medical genetics | Antibodies | Retina | Promoter regions | Disease susceptibility | Aging | Genetic association | Retinal disease | Neurodegeneration | MACULOPATHY | OXIDATIVE STRESS | retinal disease | mitochondria | MULTIDISCIPLINARY SCIENCES | genetic association | neurodegeneration | SUSCEPTIBILITY LOCI | RISK | POLYMORPHISM | GENOME | COMPLEMENT FACTOR-H | GENE | DISEASE | aging | LINKAGE | Retina - metabolism | Humans | Molecular Sequence Data | Mitochondrial Proteins - genetics | Genetic Variation | Base Sequence | Serine Endopeptidases - genetics | Conserved Sequence | Amino Acid Sequence | Gene Expression | Genetic Predisposition to Disease | RNA, Messenger - genetics | Pan troglodytes - genetics | High-Temperature Requirement A Serine Peptidase 1 | Sequence Homology, Nucleic Acid | Linkage Disequilibrium | Proteins - genetics | Sequence Homology, Amino Acid | Homozygote | Animals | Macular Degeneration - genetics | Heterozygote | Aged | Polymorphism, Single Nucleotide | Chromosomes, Human, Pair 10 - genetics | Genetic aspects | Research | Gene expression | Proteins | Ribonucleic acid--RNA | Chromosomes | Cells | Index Medicus | Biological Sciences
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5. Full Text Common variants at 9p21 and 8q22 are associated with increased susceptibility to optic nerve degeneration in glaucoma
by Wiggs, Janey L and Yaspan, Brian L and Hauser, Michael A and Kang, Jae H and Allingham, R. Rand and Olson, Lana M and Abdrabou, Wael and Fan, Bao J and Wang, Dan Y and Brodeur, Wendy and Budenz, Donald L and Caprioli, Joseph and Crenshaw, Andrew and Crooks, Kristy and DelBono, Elizabeth and Doheny, Kimberly F and Friedman, David S and Gaasterland, Douglas and Gaasterland, Terry and Laurie, Cathy and Lee, Richard K and Lichter, Paul R and Loomis, Stephanie and Liu, Yutao and Medeiros, Felipe A and McCarty, Cathy and Mirel, Daniel and Moroi, Sayoko E and Musch, David C and Realini, Anthony and Rozsa, Frank W and Schuman, Joel S and Scott, Kathleen and Singh, Kuldev and Stein, Joshua D and Trager, Edward H and VanVeldhuisen, Paul and Vollrath, Douglas and Wollstein, Gadi and Yoneyama, Sachiko and Zhang, Kang and Weinreb, Robert N and Ernst, Jason and Kellis, Manolis and Masuda, Tomohiro and Zack, Don and Richards, Julia E and Pericak-Vance, Margaret and Pasquale, Louis R and Haines, Jonathan L
PLoS Genetics, ISSN 1553-7390, 04/2012, Volume 8, Issue 4, pp. 413 - 424
Optic nerve degeneration caused by glaucoma is a leading cause of blindness worldwide. Patients affected by the normal-pressure form of glaucoma are more... 
OPEN-ANGLE GLAUCOMA | NUMBER | RECEPTOR-RELATED PROTEIN | NORMAL-TENSION GLAUCOMA | DISEASE | GENETICS & HEREDITY | RETINAL GENE-EXPRESSION | INTRAOCULAR-PRESSURE | MODULATION | GENOME-WIDE ASSOCIATION | US CAUCASIAN POPULATION | Optic Nerve - pathology | Genome-Wide Association Study | Glaucoma, Open-Angle - genetics | Humans | Nerve Degeneration - genetics | Chromosomes, Human, Pair 8 | Chromosomes, Human, Pair 9 | RNA, Untranslated - genetics | Homeodomain Proteins - genetics | Nerve Degeneration - pathology | Transforming Growth Factor beta - genetics | RNA, Long Noncoding | Alleles | Polymorphism, Single Nucleotide | Exfoliation Syndrome - genetics | Transforming Growth Factor beta - metabolism | Glaucoma | Optic nerve | Genetic variation | Physiological aspects | Development and progression | Nervous system | Genetic aspects | Degeneration | Research | Health aspects | Haplotypes | Genomes | Ophthalmology | Grants | Meta-analysis | Index Medicus
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6. Full Text Human retinal gene therapy for Leber congenital amaurosis shows advancing retinal degeneration despite enduring visual improvement
by Artur V. Cideciyan and Samuel G. Jacobson and William A. Beltran and Alexander Sumaroka and Malgorzata Swider and Simone Iwabe and Alejandro J. Roman and Melani B. Olivares and Sharon B. Schwartz and András M. Komáromy and William W. Hauswirth and Gustavo D. Aguirre
Proceedings of the National Academy of Sciences, ISSN 0027-8424, 02/2013, Volume 110, Issue 6, pp. E517 - E525
Leber congenital amaurosis (LCA) associated with retinal pigment epithelium-specific protein 65 kDa (RPE65) mutations is a severe hereditary blindness... 
Retinal structure | Neurodegeneration | Outer nuclear layer | CANINE MODEL | NIGHT BLINDNESS | ALZHEIMERS-DISEASE | MULTIDISCIPLINARY SCIENCES | neurodegeneration | RECESSIVE RETINITIS-PIGMENTOSA | NULL MUTATION DOG | BRIARD DOGS | RPE65(-/-) MOUSE MODEL | outer nuclear layer | CHILDHOOD BLINDNESS | RESTORES VISION | retinal structure | PHOTORECEPTOR DEGENERATION | Leber Congenital Amaurosis - pathology | Genetic Therapy | Leber Congenital Amaurosis - physiopathology | Retinal Degeneration - genetics | Humans | Child, Preschool | Leber Congenital Amaurosis - genetics | Retinal Degeneration - prevention & control | Young Adult | Animals | cis-trans-Isomerases - genetics | Time Factors | Vision, Ocular | Adolescent | Dogs | Adult | Mutation | Retinal Degeneration - pathology | Child | Leber Congenital Amaurosis - therapy | Photoreceptor Cells, Vertebrate - pathology | Disease Models, Animal | Proteins | Retina | T cell receptors | Gene therapy | Index Medicus | Biological Sciences | PNAS Plus
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7. Full Text DICER1 deficit induces Alu RNA toxicity in age-related macular degeneration
by Kaneko, Hiroki and Dridi, Sami and Tarallo, Valeria and Gelfand, Bradley D and Fowler, Benjamin J and Cho, Won Gil and Kleinman, Mark E and Ponicsan, Steven L and Hauswirth, William W and Chiodo, Vince A and Karikó, Katalin and Yoo, Jae Wook and Lee, Dong-Ki and Hadziahmetovic, Majda and Song, Ying and Misra, Smita and Chaudhuri, Gautam and Buaas, Frank W and Braun, Robert E and Hinton, David R and Zhang, Qing and Grossniklaus, Hans E and Provis, Jan M and Madigan, Michele C and Milam, Ann H and Justice, Nikki L and Albuquerque, Romulo J. C and Blandford, Alexander D and Bogdanovich, Sasha and Hirano, Yoshio and Witta, Jassir and Fuchs, Elaine and Littman, Dan R and Ambati, Balamurali K and Rudin, Charles M and Chong, Mark M. W and Provost, Patrick and Kugel, Jennifer F and Goodrich, James A and Dunaief, Joshua L and Baffi, Judit Z and Ambati, Jayakrishna
Nature, ISSN 0028-0836, 03/2011, Volume 471, Issue 7338, pp. 325 - 332
Geographic atrophy (GA), an untreatable advanced form of age-related macular degeneration, results from retinal pigmented epithelium (RPE) cell degeneration.... 
RECOMBINATION | LDL RECEPTOR | MICRORNA BIOGENESIS | MULTIDISCIPLINARY SCIENCES | EMBRYONIC STEM-CELLS | MOUSE OOCYTES | SIRNAS | DIFFERENTIATION | EXPRESSION | CANCER | ARGONAUTE2 | Retinal Pigment Epithelium - metabolism | Humans | Molecular Sequence Data | MicroRNAs - metabolism | Gene Knockdown Techniques | RNA - genetics | Retinal Pigment Epithelium - pathology | DEAD-box RNA Helicases - deficiency | Cell Death | DEAD-box RNA Helicases - metabolism | Alu Elements - genetics | RNA - metabolism | Oligonucleotides, Antisense | Ribonuclease III - genetics | Ribonuclease III - metabolism | Cell Survival | Cells, Cultured | Retinal Pigment Epithelium - enzymology | Ribonuclease III - deficiency | DEAD-box RNA Helicases - genetics | Phenotype | Animals | Macular Degeneration - genetics | Mice | Macular Degeneration - pathology | Macular degeneration | Prevention | Complications and side effects | Care and treatment | Blindness | Genetic aspects | Diagnosis | Ribonuclease | Research | Health aspects | Risk factors | Proteins | Studies | Pathogenesis | Genomes | Biosynthesis | Apoptosis | Index Medicus
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8. Full Text HTRA1 Promoter Polymorphism in Wet Age-Related Macular Degeneration
by Andrew DeWan and Mugen Liu and Stephen Hartman and Samuel Shao-Min Zhang and David T. L. Liu and Connie Zhao and Pancy O. S. Tam and Wai Man Chan and Dennis S. C. Lam and Michael Snyder and Colin Barnstable and Chi Pui Pang and Josephine Hoh
Science, ISSN 0036-8075, 11/2006, Volume 314, Issue 5801, pp. 989 - 992
Age-related macular degeneration (AMD), the most common cause of irreversible vision loss in individuals aged older than 50 years, is classified as either wet... 
Macular degeneration | Homozygotes | Phenotypes | Drusen | Genes | Alleles | P values | Reports | Promoter regions | Ophthalmology | Genotypes | COMPLEMENT FACTOR-H | GENE | CFH | MULTIDISCIPLINARY SCIENCES | SUSCEPTIBILITY | DISEASE | RISK | JAPANESE | CHINESE | ASSOCIATION | VARIANT | Promoter Regions, Genetic | Genetic Predisposition to Disease | Serum Response Factor - metabolism | Humans | Middle Aged | Asian Continental Ancestry Group - genetics | High-Temperature Requirement A Serine Peptidase 1 | Genotype | Male | Transcription Factor AP-2 - metabolism | Linkage Disequilibrium | Chromatin Immunoprecipitation | Macular Degeneration - genetics | Serine Endopeptidases - genetics | Aged, 80 and over | Aging | Female | Aged | Polymorphism, Single Nucleotide | Chromosomes, Human, Pair 10 - genetics | HeLa Cells | Retinal Neovascularization | Morphological variation | Research | Analysis | Genotype & phenotype | Proteases | Age | Risk factors | Polymorphism | Index Medicus
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9. Full Text CCR2+ monocytes infiltrate atrophic lesions in age‐related macular disease and mediate photoreceptor degeneration in experimental subretinal inflammation in Cx3cr1 deficient mice
by Sennlaub, Florian and Auvynet, Constance and Calippe, Bertrand and Lavalette, Sophie and Poupel, Lucie and Hu, Shulong J and Dominguez, Elisa and Camelo, Serge and Levy, Olivier and Guyon, Elodie and Saederup, Noah and Charo, Israel F and Rooijen, Nico Van and Nandrot, Emeline and Bourges, Jean‐Louis and Behar‐Cohen, Francine and Sahel, José‐Alain and Guillonneau, Xavier and Raoul, William and Combadiere, Christophe
EMBO Molecular Medicine, ISSN 1757-4676, 11/2013, Volume 5, Issue 11, pp. 1775 - 1793
The eyes of patients with atrophic AMD feature high CCL2 and CCR2 + monocytes. This is modeled in Cx3cr1 KO mice in which Ccl2 and Ccr2 deletion, CCR2... 
neurodegeneration | monocyte | age‐related macular disease | chemokines | neuroinflammation | Neuroinflammation | Monocyte | Age-related macular disease | Neurodegeneration | Chemokines | RETINAL DEGENERATION | MEDICINE, RESEARCH & EXPERIMENTAL | EXPERIMENTAL AUTOIMMUNE ENCEPHALOMYELITIS | CX3CR1-DEFICIENT MICE | BONE-MARROW | MICROGLIAL CELLS | CHOROIDAL NEOVASCULARIZATION | age-related macular disease | FACTOR-H POLYMORPHISM | CHEMOATTRACTANT PROTEIN-1 | RETINITIS-PIGMENTOSA | GEOGRAPHIC ATROPHY | Receptors, CCR2 - genetics | Macular Degeneration - immunology | Chemokine CCL2 - immunology | Receptors, CCR2 - immunology | Humans | Mice, Inbred C57BL | Male | Inflammation - immunology | Monocytes - immunology | Receptors, Chemokine - immunology | Neutrophil Infiltration | Mice, Knockout | Receptors, Chemokine - deficiency | Animals | Macular Degeneration - genetics | Inflammation - genetics | Photoreceptor Cells, Vertebrate - immunology | Female | Mice | Receptors, Chemokine - genetics | CX3C Chemokine Receptor 1 | Physiological aspects | Inflammation | Macular degeneration | Photoreceptors | Rodents | Index Medicus | Life Sciences | Human health and pathology | Immunology | Sensory Organs
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10. Full Text Safety and Efficacy of Gene Transfer for Leber's Congenital Amaurosis
by Maguire, Maureen G and Maguire, Albert M and Simonelli, Francesca and Pierce, Eric A and Pugh, Edward N and Mingozzi, Federico and Bennicelli, Jeannette and Banfi, Sandro and Marshall, Kathleen A and Testa, Francesco and Surace, Enrico M and Rossi, Settimio and Lyubarsky, Arkady and Arruda, Valder R and Konkle, Barbara and Stone, Edwin and Sun, Junwei and Jacobs, Jonathan and Dell'Osso, Lou and Hertle, Richard and Ma, Jian-xing and Redmond, T. Michael and Zhu, Xiaosong and Hauck, Bernd and Zelenaia, Olga and Shindler, Kenneth S and Wright, J. Fraser and Volpe, Nicholas J and McDonnell, Jennifer Wellman and Auricchio, Alberto and High, Katherine A and Bennett, Jean
The New England Journal of Medicine, ISSN 0028-4793, 05/2008, Volume 358, Issue 21, pp. 2240 - 2248
Leber's congenital amaurosis (LCA) is a group of inherited disorders involving retinal degeneration with severe vision loss noted in early infancy. The... 
LIGHT REFLEX | VISUAL CYCLE | ISOMEROHYDROLASE | MEDICINE, GENERAL & INTERNAL | CHILDHOOD BLINDNESS | CANINE MODEL | THERAPY | VISION | DYSTROPHY | RPE65 MUTATIONS | RETINITIS-PIGMENTOSA | Dependovirus - genetics | Gene Transfer Techniques | Genetic Therapy | Promoter Regions, Genetic | Retinal Degeneration - genetics | Humans | Blindness - pathology | Visual Acuity | Blindness - genetics | Carrier Proteins - genetics | Injections | Reflex, Pupillary | Retinal Degeneration - therapy | Adult | Blindness - congenital | Blindness - therapy | Eye Proteins - genetics | Mutation | Retinal Degeneration - congenital | Genetic Vectors | Retinal Degeneration - pathology | Retina - pathology | cis-trans-Isomerases | DNA, Complementary | Usage | Care and treatment | Adenoviruses | Leber's congenital amaurosis | Diagnosis | Gene therapy | Health aspects | Index Medicus | Abridged Index Medicus
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