Genetic testing for retinal dystrophies and dysfunctions: Benefits, dilemmas and solutions

Clinical and Experimental Ophthalmology

Volumn 35, Issue 5, 2007, Pages 473-485

  Koenekoop, Robert K ^a   Lopez, Irma ^a   Den Hollander, Anneke I ^b   Allikmets, Rando ^c   Cremers, Frans P M ^b  

^a MCGILL UNIVERSITY HEALTH CENTRE   (Canada)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c Och Spine at New York Presbyterian Hospitals   (United States)

Author keywords

CEP290; Genetherapy; Leber congenital amaurosis; Retinal dystrophies; Retinitis pigmentosa; RPE65

Indexed keywords

AGENTS ACTING ON THE EYE; CYCLIC GMP PHOSPHODIESTERASE; GENE PRODUCT; PARVOVIRUS VECTOR; PERIPHERIN; PROTEIN RDS; PROTEIN RPE65; PROTEIN RPGRIP1; RECEPTOR PROTEIN; RETINOID CYCLE ENZYME 65 PROTEIN; RHODOPSIN; UNCLASSIFIED DRUG;

ARTICLE; CLINICAL FEATURE; COLOR BLINDNESS; CORRELATION ANALYSIS; COST EFFECTIVENESS ANALYSIS; DIAGNOSTIC ACCURACY; DNA DETERMINATION; GENE FUNCTION; GENE IDENTIFICATION; GENE MUTATION; GENETIC RISK; GENETIC SCREENING; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HIGH THROUGHPUT SCREENING; HUMAN; LEBER CONGENITAL AMAUROSIS; MICROARRAY ANALYSIS; MUTATIONAL ANALYSIS; NIGHT BLINDNESS; NONHUMAN; NONVIRAL GENE THERAPY; OPTICAL COHERENCE TOMOGRAPHY; PRACTICE GUIDELINE; PROGNOSIS; RETINA DISEASE; RETINA DYSTROPHY; RETINITIS PIGMENTOSA; RISK ASSESSMENT; RISK FACTOR; VIRAL GENE DELIVERY SYSTEM; VISUAL SYSTEM EXAMINATION;

BLINDNESS; CALCIUM CHANNELS, L-TYPE; CARRIER PROTEINS; CHILD, PRESCHOOL; COLOR VISION DEFECTS; DNA MUTATIONAL ANALYSIS; EYE PROTEINS; GENETIC SCREENING; GENOTYPE; GUANYLATE CYCLASE; HUMANS; INFANT; ION CHANNELS; MALE; NIGHT BLINDNESS; PHARMACOGENETICS; RECEPTORS, CELL SURFACE; RETINAL DEGENERATION;

EID: 34547491276     PISSN: 14426404     EISSN: 14429071     Source Type: Journal    
DOI: 10.1111/j.1442-9071.2007.01534.x     Document Type: Article

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