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Journal Article
AMERICAN JOURNAL OF OPHTHALMOLOGY, ISSN 0002-9394, 05/2014, Volume 157, Issue 5, pp. 1005 - 1012
PURPOSE: To subclassify pseudodrusen based on their appearance in multimodal imaging. DESIGN: Retrospective, observational series. METHODS: The color fundus... 
ALBIPUNCTATUS | AGE-RELATED MACULOPATHY | RETICULAR PSEUDODRUSEN | AUTOFLUORESCENCE CHARACTERISTICS | OPHTHALMOLOGY | MACULAR DEGENERATION | SUBRETINAL DRUSENOID DEPOSITS | MUTATIONS | PREVALENCE | RETINITIS PUNCTATA ALBESCENS | GEOGRAPHIC ATROPHY
Journal Article
Progress in Retinal and Eye Research, ISSN 1350-9462, 03/2015, Volume 45, pp. 58 - 110
Congenital stationary night blindness (CSNB) refers to a group of genetically and clinically heterogeneous retinal disorders. Seventeen different genes with... 
Animal models | Prevalence | Fundus albipunctatus | Oguchi disease | Molecular genetics | Diagnostics | Pathophysiology | Protein function | Schubert-Bornschein | Congenital stationary night blindness (CSNB) | MELANOMA-ASSOCIATED RETINOPATHY | CALCIUM-DEPENDENT INACTIVATION | COMPOUND HETEROZYGOUS MUTATION | MIZUO-NAKAMURA PHENOMENON | ON-BIPOLAR CELLS | LEUCINE-RICH REPEAT | PRIMATE PHOTOPIC ELECTRORETINOGRAM | SCANNING LASER OPHTHALMOSCOPY | OPHTHALMOLOGY | 11-CIS-RETINOL DEHYDROGENASE GENE | RETINITIS PUNCTATA ALBESCENS | Humans | Eye Diseases, Hereditary - diagnosis | Myopia - diagnosis | Genetic Diseases, X-Linked - genetics | Myopia - therapy | Eye Proteins - genetics | Night Blindness - genetics | Night Blindness - therapy | Genetic Diseases, X-Linked - physiopathology | Disease Models, Animal | Electroretinography | Eye Diseases, Hereditary - physiopathology | Genetic Association Studies | Night Blindness - diagnosis | Genotype | Genetic Diseases, X-Linked - diagnosis | Eye Diseases, Hereditary - genetics | Myopia - genetics | Phenotype | Animals | Myopia - physiopathology | Night Blindness - physiopathology | Eye Diseases, Hereditary - therapy | Mutation | Genetic Diseases, X-Linked - therapy | Genetic Therapy - methods | Proteins | Genetic research | Genetic aspects | Genetic disorders | Analysis | Prevalence studies (Epidemiology)
Journal Article
Scientific Reports, ISSN 2045-2322, 04/2017, Volume 7, Issue 1, p. 46285
Fundus albipunctatus (FA) is a rare autosomal recessive form of stationary night blindness characterized by the presence of white or white-yellow dots in the... 
LEBER CONGENITAL AMAUROSIS | PROTEIN | THERAPY | RETINOID VISUAL CYCLE | DYSTROPHY | MULTIDISCIPLINARY SCIENCES | RDH5 GENE | MUTATIONS | RETINITIS PUNCTATA ALBESCENS | RPE65 | Retina | Mutation | Nyctalopia | Stationary night blindness | Deoxyribonucleic acid--DNA | Blindness
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 02/2015, Volume 125, Issue 2, pp. 727 - 738
Journal Article
Journal Article