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Investigative Ophthalmology and Visual Science, ISSN 0146-0404, 12/2016, Volume 57, Issue 15, pp. 6861 - 6869
Journal Article
Journal Article
American Journal of Ophthalmology, ISSN 0002-9394, 2012, Volume 154, Issue 6, pp. 987 - 1001.e1
Journal Article
Clinical Genetics, ISSN 0009-9163, 06/2016, Volume 89, Issue 6, pp. 690 - 699
Congenital stationary night blindness ( CSNB ) is a clinically and genetically heterogeneous retinal disorder which represents rod photoreceptor dysfunction or... 
SLC24A1 | high‐throughput sequencing | congenital stationary night blindness | humans | Congenital stationary night blindness | High-throughput sequencing | Humans | RHODOPSIN GENE | ALPHA-SUBUNIT | CHANNEL | PATHOGENIC MECHANISMS | ROD TRANSDUCIN | GENETICS & HEREDITY | MISSENSE MUTATION | ELECTRORETINOGRAM | CONE DYSTROPHY | NA/CA-K EXCHANGER | NA+/CA2+-K+ EXCHANGERS | high-throughput sequencing | Eye Diseases, Hereditary - diagnosis | Family Health | Male | Sodium-Calcium Exchanger - genetics | Base Sequence | Myopia - diagnosis | Female | Genetic Diseases, X-Linked - genetics | High-Throughput Nucleotide Sequencing - methods | Night Blindness - genetics | Genetic Diseases, X-Linked - physiopathology | Electroretinography | Amino Acid Sequence | Genetic Predisposition to Disease - genetics | Eye Diseases, Hereditary - physiopathology | Night Blindness - diagnosis | Genes, Recessive | Genetic Diseases, X-Linked - diagnosis | Eye Diseases, Hereditary - genetics | Myopia - genetics | Sequence Homology, Amino Acid | Homozygote | Exome - genetics | Myopia - physiopathology | Pedigree | Night Blindness - physiopathology | Mutation | Analysis | Genomics | Genetic disorders | Retina | Photoreceptors | Eye diseases | Congenital diseases | Blindness | Index Medicus | Life Sciences | Human health and pathology | Genetics
Journal Article
Japanese Journal of Ophthalmology, ISSN 0021-5155, 3/2019, Volume 63, Issue 2, pp. 172 - 180
To report the findings in 3 cases of bilateral negative electroretinograms (ERGs) with acute onset of photophobia.Retrospective case series.The medical charts... 
Negative-type ERG | Post-phototransduction abnormality | Ophthalmology | Medicine & Public Health | Incomplete-type congenital stationary night blindness | Acquired retinal disease | AUTOANTIBODIES | EYES | PHOTOPIC ELECTRORETINOGRAM | RESPONSES | RETINAL DYSTROPHY | OPHTHALMOLOGY | CONE DYSTROPHY | RETINOPATHY | MUTATIONS | NEGATIVE ELECTRORETINOGRAM | STATIONARY NIGHT BLINDNESS | Electroretinography - methods | Follow-Up Studies | Photophobia - etiology | Humans | Genetic Diseases, X-Linked - complications | Eye Diseases, Hereditary - diagnosis | Myopia - diagnosis | Night Blindness - complications | Adult | Female | Retrospective Studies | Genetic Diseases, X-Linked - physiopathology | Fluorescein Angiography | Myopia - complications | Acute Disease | Diagnosis, Differential | Eye Diseases, Hereditary - physiopathology | Eye Diseases, Hereditary - complications | Tomography, Optical Coherence | Night Blindness - diagnosis | Photophobia - diagnosis | Visual Acuity | Genetic Diseases, X-Linked - diagnosis | Myopia - physiopathology | Night Blindness - physiopathology | Aged | Fundus Oculi | Medical colleges | Analysis | Genetic disorders | Angiography | Abnormalities | Retina | Visual acuity | Nyctalopia | Patients | Acuity | Electroretinograms | Optical Coherence Tomography | Fluorescein | Genetic analysis | Blindness | Eye diseases | Stationary night blindness | Visual fields | Index Medicus
Journal Article
Investigative Ophthalmology and Visual Science, ISSN 0146-0404, 11/2013, Volume 54, Issue 13, pp. 8041 - 8050
Journal Article
British Journal of Ophthalmology, ISSN 0007-1161, 04/2016, Volume 100, Issue 4, pp. 495 - 500
BackgroundThe GNAT1 gene encodes the α subunit of the rod transducin protein, a key element in the rod phototransduction cascade. Variants in GNAT1 have been... 
Genetics | Retina | Degeneration | CGMP-PHOSPHODIESTERASE | NOUGARET FORM | DATABASE | TRANSDUCIN ALPHA-SUBUNIT | ROD TRANSDUCIN | RECESSIVE RETINITIS-PIGMENTOSA | OPHTHALMOLOGY | UPDATE | GENOME | STATIONARY NIGHT BLINDNESS | Humans | Middle Aged | Molecular Sequence Data | Eye Diseases, Hereditary - diagnosis | Male | Heterotrimeric GTP-Binding Proteins - genetics | Base Sequence | Myopia - diagnosis | Aged, 80 and over | Adult | Female | Genetic Diseases, X-Linked - genetics | Eye Proteins - genetics | Night Blindness - genetics | Retinitis Pigmentosa - physiopathology | Genetic Diseases, X-Linked - physiopathology | Siblings | Electroretinography | Amino Acid Sequence | Eye Diseases, Hereditary - physiopathology | Tomography, Optical Coherence | Night Blindness - diagnosis | Retina - physiopathology | Retinitis Pigmentosa - genetics | Codon, Nonsense | Genetic Diseases, X-Linked - diagnosis | Eye Diseases, Hereditary - genetics | Retinitis Pigmentosa - diagnosis | Myopia - genetics | DNA - isolation & purification | Myopia - physiopathology | Night Blindness - physiopathology | Aged | High-Throughput Nucleotide Sequencing | Genetically modified mice | Retinal degeneration | Care and treatment | Research | Gene mutations | Risk factors | Proteins | Diabetic retinopathy | Genes | Tomography | Photoreceptors | Mutation | Patients | Age | Deoxyribonucleic acid--DNA | Index Medicus | Clinical Science | 1506
Journal Article
Molecular Vision, ISSN 1090-0535, 10/2017, Volume 23, pp. 695 - 706
Journal Article
Journal Article
Documenta Ophthalmologica, ISSN 0012-4486, 4/2018, Volume 136, Issue 2, pp. 135 - 143
CABP4-related retinal dysfunction is a cone–rod synaptic transmission disorder with electronegative electroretinogram (ERG) waveform. It is a rare retinal... 
Electroretinography | OCT | Medicine & Public Health | CABP4 | Hemeralopia | Multimodal fundus imaging | Ophthalmology | HIGH-HYPEROPIA | OPTICAL COHERENCE TOMOGRAPHY | PHENOTYPE | CLINICAL CHARACTERIZATION | POSTERIOR MICROPHTHALMOS | LEBER CONGENITAL AMAUROSIS | GENE | OPHTHALMOLOGY | MUTATIONS | STATIONARY NIGHT BLINDNESS | Retinal Diseases - genetics | Humans | Eye Diseases, Hereditary - diagnosis | Infant | Male | Myopia - diagnosis | Genetic Diseases, X-Linked - genetics | Retrospective Studies | Night Blindness - genetics | Genetic Diseases, X-Linked - physiopathology | Fluorescein Angiography | European Continental Ancestry Group - genetics | France - epidemiology | Retinal Diseases - diagnosis | Eye Diseases, Hereditary - physiopathology | Night Blindness - diagnosis | Tomography, Optical Coherence - methods | Visual Acuity | Genetic Diseases, X-Linked - diagnosis | Eye Diseases, Hereditary - genetics | Myopia - genetics | Myopia - physiopathology | Pedigree | Night Blindness - physiopathology | Mutation | Retinal Diseases - physiopathology | Fundus Oculi | Photoreceptor Cells, Vertebrate - pathology | Calcium-Binding Proteins - genetics | Medicine, Experimental | Medical research | Genetic disorders | Congenital diseases | Synaptic transmission | Blindness | Nystagmus | Tomography | Retina | Diagnosis | Nyctalopia | Stationary night blindness | Electroretinograms | Index Medicus
Journal Article
Journal Article