GUCY2D-Associated Leber Congenital Amaurosis: A Retrospective Natural History Study in Preparation for Trials of Novel Therapies - Bouzia, Zaina; Georgiou, Michalis; Hull, Sarah; Robson, Anthony G.; Fujinami, Kaoru; Rotsos, Tryfon; Pontikos, Nikolas; Arno, Gavin; Webster, Andrew R.; Hardcastle, Alison J.; Fiorentino, Alessia; Michaelides, Michel (American journal of ophthalmology, 2020)
Keywords: Adolescent; Adult; Age; Child; Child, Preschool; Congenital diseases; Diabetic retinopathy; Disease Progression; Families & family life; Female; Genes; Genetic counseling; Genetics; Genomes; Guanylate Cyclase - genetics; Humans; Leber Congenital Amaurosis - genetics; Leber Congenital Amaurosis - pathology; Male; Middle Aged; Patients; Photoreceptor Cells, Vertebrate - pathology; Photoreceptors; Receptors, Cell Surface - genetics; Retinal Pigment Epithelium - pathology; Retrospective Studies; Tomography, Optical Coherence; Vision Disorders - etiology; Visual Acuity; Visual impairment; United Kingdom--UK