Retinal Structure in RPE65 -Associated Retinal Dystrophy

• Published in: Investigative ophthalmology & visual science Vol. 61; no. 4; p. 47
• Main Authors: Kumaran, Neruban, Georgiou, Michalis, Bainbridge, James W. B., Bertelsen, Mette, Larsen, Michael, Blanco-Kelly, Fiona, Ayuso, Carmen, Tran, Hoai Viet, Munier, Francis L., Kalitzeos, Angelos, Michaelides, Michel
• Format: Journal Article
• Language: English
• Published: United States The Association for Research in Vision and Ophthalmology 29.04.2020
• Subjects: Adolescent; Adult; Age of Onset; Child; cis-trans-Isomerases - genetics; Cross-Sectional Studies; Eye Diseases, Hereditary - diagnostic imaging; Eye Diseases, Hereditary - genetics; Female; Fluorescein Angiography - methods; Follow-Up Studies; Genetic Predisposition to Disease; Genetics; Humans; Longitudinal Studies; Male; Monitoring, Physiologic; Retinal Dystrophies - diagnostic imaging; Retinal Dystrophies - genetics; Risk Assessment; Tomography, Optical Coherence - methods; Young Adult

RPE65-associated retinal dystrophy (RPE65-RD) is an early onset, progressive, severe retinal dystrophy. We sought to characterize the natural history of retinal degeneration in affected individuals. We performed cross-sectional and longitudinal quantitative and qualitative assessments of retinal arc...