Fundus albipunctatus associated with compound heterozygous mutations in RPE65

Ophthalmology

Volumn 118, Issue 5, 2011, Pages 888-894

  Schatz, Patrik ^a,b,c   Preising, Markus ^d   Lorenz, Birgit ^d   Sander, Birgit ^a   Larsen, Michael ^a,c   Rosenberg, Thomas ^c  

^a UNIVERSITY OF COPENHAGEN   (Denmark)

^b LUND UNIVERSITY HOSPITAL   (Sweden)

^c JOHN F KENNEDY INSTITUTE   (Denmark)

^d JUSTUS LIEBIG UNIVERSITY GIESSEN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; AUTOFLUORESCENCE; CASE REPORT; CONTROLLED STUDY; DARK ADAPTATION; ELECTRORETINOGRAM; EYE FUNDUS ALBIPUNCTATUS; FEMALE; FULL FIELD ELECTRORETINOGRAM; FUNDUS AUTOFLUORESCENCE; GENE; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; HETEROZYGOSITY; HUMAN; MALE; MULTIFOCAL ELECTRORETINOGRAM; OPTICAL COHERENCE TOMOGRAPHY; PEDIGREE; PIGMENT EPITHELIUM; PRIORITY JOURNAL; RPE65 GENE;

ADOLESCENT; ALCOHOL OXIDOREDUCTASES; CARRIER PROTEINS; DARK ADAPTATION; DNA MUTATIONAL ANALYSIS; ELECTRORETINOGRAPHY; EYE PROTEINS; FEMALE; HETEROZYGOTE; HUMANS; MALE; MIDDLE AGED; MUTATION; NIGHT BLINDNESS; PEDIGREE; POLYMERASE CHAIN REACTION; RETINAL DEGENERATION; TOMOGRAPHY, OPTICAL COHERENCE; VISUAL ACUITY; YOUNG ADULT;

EID: 79955574258     PISSN: 01616420     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ophtha.2010.09.005     Document Type: Article

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