Detailed clinical characterisation, unique features and natural history of autosomal recessive RDH12-associated retinal degeneration - Fahim, Abigail T; Bouzia, Zaina; Branham, Kari H; Kumaran, Neruban; Vargas, Mauricio E; Feathers, Kecia L; Perera, N Dayanthi; Young, Kelly; Khan, Naheed W; Heckenlively, John R; Webster, Andrew R; Pennesi, Mark E; et al. (British journal of ophthalmology, 2019)
Keywords: Adolescent; Adult; Adults; Age of Onset; Aged; Alcohol Oxidoreductases - genetics; Child; Child, Preschool; Children & youth; Childrens health; Color Vision - physiology; Congenital diseases; Deoxyribonucleic acid; Disease; DNA; DNA Mutational Analysis; Electroretinography; Enzymes; Eye Diseases, Hereditary - diagnosis; Eye Diseases, Hereditary - genetics; Eye Diseases, Hereditary - physiopathology; FDA approval; Female; Gene therapy; Genomes; Genotype; Humans; Male; Middle Aged; Mutation; Natural history; Night Vision - physiology; Pediatrics; Phenotype; Photoreceptors; Retina; Retina - physiopathology; Retinal Dystrophies - diagnosis; Retinal Dystrophies - genetics; Retinal Dystrophies - physiopathology; Retrospective Studies; Tomography, Optical Coherence; Visual Acuity - physiology; Visual Fields - physiology; United States--US; genetics; child health (paediatrics); dystrophy; retina; degeneration