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Investigative Ophthalmology and Visual Science, ISSN 0146-0404, 03/2019, Volume 60, Issue 4, pp. 1192 - 1203
PURPOSE. To describe the clinical and genetic spectrum of RP1-associated retinal dystrophies. METHODS. In this multicenter case series, we included 22 patients... 
Phenotypic spectrum | RP1 | Retinitis pigmentosa | Cone-rod dystrophy | Macular dystrophy | PROTEIN | phenotypic spectrum | retinitis pigmentosa | RHODOPSIN | OPHTHALMOLOGY | cone-rod dystrophy | macular dystrophy | ISCEV STANDARD | RETINITIS | IDENTIFICATION
Journal Article
Journal Article
Ophthalmology, ISSN 0161-6420, 10/2015, Volume 122, Issue 10, pp. e60 - e60
Journal Article
Ophthalmology, ISSN 0161-6420, 10/2015, Volume 122, Issue 10, p. e60
Journal Article
Ophthalmology, ISSN 0161-6420, 2015, Volume 122, Issue 10, pp. e60 - e60
Journal Article
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 01/2012, Volume 90, Issue 1, pp. 102 - 109
Journal Article
Plos One, ISSN 1932-6203, 2014, Volume 9, Issue 11, pp. e112682 - e112682
Age-related macular degeneration (AMD) is the leading cause of blindness in the Western world. AMD is a multifactorial disorder but complement-mediated... 
SYSTEM | MACULOPATHY | RISK ALLELES | BLUE MOUNTAINS EYE | CLINICAL-TRIAL | CFH | MULTIDISCIPLINARY SCIENCES | FACTOR-H POLYMORPHISM | DIETARY ANTIOXIDANTS | PREVALENCE | RANIBIZUMAB | Retina - drug effects | Macular Degeneration - diet therapy | Macular Degeneration - immunology | Complement C3d - immunology | Epithelial Cells - drug effects | Humans | Complement C5a - metabolism | Male | Retina - immunology | Complement C3d - metabolism | Complement Factor B - metabolism | Zinc Sulfate - administration & dosage | Aged, 80 and over | Female | Epithelial Cells - cytology | Complement Activation - drug effects | Retinal Pigment Epithelium - drug effects | Complement Factor H - immunology | Gene Expression | Complement C3 - metabolism | Cells, Cultured | Macular Degeneration - blood | Proteins - immunology | Complement C3 - immunology | Proteins - genetics | Complement Factor H - metabolism | Copper Sulfate - administration & dosage | Epithelial Cells - immunology | Retinal Pigment Epithelium - immunology | Complement Factor B - immunology | Aged | Complement C5a - immunology | Mutation | Dietary Supplements | Retina - pathology | Retinal Pigment Epithelium - cytology | Macular Degeneration - pathology | Laboratories | Complement component C5a | Retina | Systematic review | Activation | Complement | Sulfates | Peritoneal dialysis | Macular degeneration | Complement factor H | Membrane attack complex | Degeneration | Supplementation | Age | Dietary supplements | Inflammation | Patients | Fatty acids | Zinc | Hypotheses | Complement activation | Complement component C3 | Blindness | Anaphylatoxin C5a | Eye diseases | Catabolism | Index Medicus | Basic Medicine | Other Basic Medicine | Andra medicinska och farmaceutiska grundvetenskaper | Medical and Health Sciences | Medicin och hälsovetenskap | Medicinska och farmaceutiska grundvetenskaper
Journal Article