Nature of the visual loss in observers with Leber's congenital amaurosis caused by specific mutations in RPE65

Investigative ophthalmology & visual science

Volumn 55, Issue 10, 2014, Pages 6817-6828

  Ripamonti, Caterina ^a   Henning, G Bruce ^a   Ali, Robin R ^a   Bainbridge, James W ^a   Robbie, Scott J ^a   Sundaram, Venki ^a   Luong, Vy A ^a   van den Born, L Ingeborgh ^a   Casteels, Ingele ^a   de Ravel, Thomy J L ^a   Moore, Anthony T ^a   Stockman, Andrew ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

flicker sensitivity; LCA2; Leber's congenital amaurosis; rods and cones; RPE65; scotopic; temporal processing

Indexed keywords

CIS TRANS ISOMERASE; DNA; RETINOID ISOMEROHYDROLASE;

ADOLESCENT; ADULT; BLINDNESS; CHILD; COMPLICATION; CONTRAST SENSITIVITY; CRITICAL FLICKER FUSION; ENZYMOLOGY; FEMALE; GENETICS; HUMAN; LEBER CONGENITAL AMAUROSIS; MALE; METABOLISM; MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY; PHOTOSTIMULATION; RETINA CONE; YOUNG ADULT;

ADOLESCENT; ADULT; BLINDNESS; CHILD; CIS-TRANS-ISOMERASES; CONTRAST SENSITIVITY; DNA; DNA MUTATIONAL ANALYSIS; FEMALE; FLICKER FUSION; HUMANS; LEBER CONGENITAL AMAUROSIS; MALE; MUTATION; PHOTIC STIMULATION; RETINAL CONE PHOTORECEPTOR CELLS; YOUNG ADULT;

EID: 84925285097     PISSN: None     EISSN: 15525783     Source Type: Journal    
DOI: 10.1167/iovs.14-14923     Document Type: Article

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