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JAMA Ophthalmology, ISSN 2168-6165, 04/2018, Volume 136, Issue 4, p. 398
We are in the midst of an unprecedented and exciting paradigm shift in ophthalmology and the visual sciences. We are deepening our understanding and... 
Genotype & phenotype | Phototransduction | Phenotypes | Visual impairment | Blindness | Retina | Ophthalmology | Nyctalopia | Stationary night blindness
Journal Article
JAMA Ophthalmology, ISSN 2168-6165, 04/2018, Volume 136, Issue 4, pp. 398 - 399
Journal Article
Canadian Journal of Ophthalmology, ISSN 0008-4182, 04/2016, Volume 51, Issue 2, p. e60-e62
Journal Article
Nature Genetics, ISSN 1061-4036, 2010, Volume 42, Issue 10, pp. 840 - 850
Journal Article
The Lancet, ISSN 0140-6736, 10/2014, Volume 384, Issue 9953, p. 1513
  Leber congenital amaurosis, caused by mutations inRPE65andLRAT, is a severe form of inherited retinal degeneration leading to blindness. We aimed to assess... 
Medical treatment | Blindness | Pigments | Retina | Photoreceptors | Mutation | Patients | Children & youth
Journal Article
Documenta Ophthalmologica, ISSN 0012-4486, 6/2016, Volume 132, Issue 3, pp. 231 - 231
To access, purchase, authenticate, or subscribe to the full-text of this article, please visit this link: http://dx.doi.org/10.1007/s10633-016-9542-1 
Medicine & Public Health | Ophthalmology
Journal Article
Human Genetics, ISSN 0340-6717, 3/2014, Volume 133, Issue 3, pp. 331 - 345
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 10/2013, Volume 110, Issue 40, pp. 16139 - 16144
Journal Article
by Chaki, Moumita and Airik, Rannar and Ghosh, Amiya K and Giles, Rachel H and Chen, Rui and Slaats, Gisela G and Wang, Hui and Wang, Shaohui and Hurd, Toby W and Zhou, Weibin and Cluckey, Andrew and Gee, Heon Yung and Ramaswami, Gokul and Hong, Chen-Jei and Hamilton, Bruce A and Červenka, Igor and Ganji, Ranjani Sri and Bryja, Vitezslav and Arts, Heleen H and van Reeuwijk, Jeroen and Oud, Machteld M and Letteboer, Stef J.F and Roepman, Ronald and Husson, Hervé and Ibraghimov-Beskrovnaya, Oxana and Yasunaga, Takayuki and Walz, Gerd and Eley, Lorraine and Sayer, John A and Schermer, Bernhard and Liebau, Max C and Benzing, Thomas and Le Corre, Stephanie and Drummond, Iain and Janssen, Sabine and Allen, Susan J and Natarajan, Sivakumar and O’Toole, John F and Attanasio, Massimo and Saunier, Sophie and Antignac, Corinne and Koenekoop, Robert K and Ren, Huanan and Lopez, Irma and Nayir, Ahmet and Stoetzel, Corinne and Dollfus, Helene and Massoudi, Rustin and Gleeson, Joseph G and Andreoli, Sharon P and Doherty, Dan G and Lindstrad, Anna and Golzio, Christelle and Katsanis, Nicholas and Pape, Lars and Abboud, Emad B and Al-Rajhi, Ali A and Lewis, Richard A and Omran, Heymut and Lee, Eva Y.-H.P and Sekiguchi, JoAnn M and Saunders, Rudel and Johnson, Colin A and Garner, Elizabeth and Vanselow, Katja and Andersen, Jens S and Shlomai, Joseph and Nurnberg, Peter and Nurnberg, Gudrun and Levy, Shawn and Smogorzewska, Agata and Otto, Edgar A and Hildebrandt, Friedhelm
Cell, ISSN 0092-8674, 08/2012, Volume 150, Issue 3, pp. 533 - 548
Journal Article
Journal of Visual Impairment and Blindness, ISSN 0145-482X, 09/2015, Volume 109, Issue 5, pp. 359 - 370
Introduction: Sleep is important for optimal physical health and vitality. Recent studies have shown that individuals with visual impairments may be at risk... 
BLIND | INSOMNIA | DISTURBANCES | QUALITY INDEX | MEMORY | GENE | MELANOPSIN | REHABILITATION | TASIMELTEON | RETINITIS-PIGMENTOSA | DREAMS | Sleep disorders | Complications and side effects | Genetic aspects | Retinal diseases | Risk factors | Distribution | Macular degeneration | Studies | Visual impairment | Blindness | Retina | Circadian rhythm
Journal Article
JAMA Ophthalmology, ISSN 2168-6165, 02/2013, Volume 131, Issue 2, p. 178
  To evaluate changes in visual acuity (VA) over time in patients with Leber congenital amaurosis (LCA) and mutations in the CEP290 gene. Visual acuity was... 
Correlation analysis | Medical treatment | Eye diseases | Mutation | Ophthalmology
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 02/2012, Volume 90, Issue 2, pp. 331 - 339
Complete congenital stationary night blindness (cCSNB) is a clinically and genetically heterogeneous group of retinal disorders characterized by nonprogressive... 
COMPLETE FORM | LIGHT RESPONSE | CHANNEL | MGLUR6 | SYNAPTIC-TRANSMISSION | MOUSE MODEL | GENETICS & HEREDITY | NYCTALOPIN | RICH REPEAT PROTEIN | MUTATIONS | CONE ELECTRORETINOGRAM | Electroretinography - methods | Night Blindness - metabolism | Humans | Dark Adaptation - genetics | Retinal Rod Photoreceptor Cells - metabolism | Gene Knockdown Techniques - methods | Myopia - metabolism | Receptors, Metabotropic Glutamate - genetics | Retinal Bipolar Cells - physiology | Chromosome Mapping - methods | Genetic Diseases, X-Linked | Night Blindness - genetics | Retinal Bipolar Cells - metabolism | Eye Diseases, Hereditary | Signal Transduction | Mice, Inbred C57BL | Zebrafish | Mice, Inbred C3H | Myopia - genetics | Animals | Myopia - physiopathology | Pedigree | Night Blindness - physiopathology | Retinal Rod Photoreceptor Cells - physiology | Heterozygote | Mice | Receptors, G-Protein-Coupled - genetics | Mutation | Chromosome mapping | Usage | Gene mutations | Retinal bipolar cells | Causes of | Physiological aspects | Night blindness | Genetic aspects | Research | Analysis | Genetic disorders | Proteins | Rodents | Blindness | Gene expression | Cells | Index Medicus | Animal models | Antibodies | Insertion | stationary night blindness | Retina | Guanine nucleotide-binding protein | Electroretinograms | Depolarization | Signal transduction | Vision | Bipolar cells | Gene mapping | DNA sequencing | Report
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 10/2007, Volume 104, Issue 40, pp. 15917 - 15922
Journal Article