Long-term follow-up of the human phenotype in three siblings with cone dystrophy associated with a homozygous p.G461R mutation of KCNV2

Investigative Ophthalmology and Visual Science

Volumn 52, Issue 12, 2011, Pages 8621-8629

  Friedburg, Christoph ^a,b   Wissinger, Bernd ^c   Schambeck, Maria ^b   Bonin, Michael ^d   Kohl, Susanne ^c   Lorenz, Birgit ^a,b  

^a JUSTUS LIEBIG UNIVERSITY   (Germany)

^b UNIVERSITY HOSPITAL REGENSBURG   (Germany)

^c UNIVERSITY HOSPITAL TÜBINGEN   (Germany)

^d UNIVERSITY OF TÜBINGEN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOFLUORESCENCE IMAGING; CASE REPORT; CENTRAL SCOTOMA; CHILD; COLOR DISCRIMINATION; COLOR VISION; CONE DYSTROPHY; CONTROLLED STUDY; ELECTRORETINOGRAPHY; EYE EXAMINATION; EYE FUNDUS; FEMALE; GENE; GENE MUTATION; HOMOZYGOSITY; HUMAN; INFANT; KCNV2 GENE; LONGITUDINAL STUDY; MALE; MOLECULAR GENETICS; NIGHT VISION; NYSTAGMUS; OPTICAL COHERENCE TOMOGRAPHY; PERIMETRY; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; RETINA DYSTROPHY; SIBLING; VISUAL ACUITY; COLOR VISION DEFECT; FOLLOW UP; GENETIC LINKAGE; GENETICS; HOMOZYGOTE; PATHOLOGY; POINT MUTATION; RETINA CONE;

KCNV2 PROTEIN, HUMAN; VOLTAGE GATED POTASSIUM CHANNEL;

CHILD, PRESCHOOL; COLOR VISION DEFECTS; FEMALE; FOLLOW-UP STUDIES; GENETIC LINKAGE; HOMOZYGOTE; HUMANS; INFANT; MALE; PHENOTYPE; POINT MUTATION; POTASSIUM CHANNELS, VOLTAGE-GATED; RETINAL CONE PHOTORECEPTOR CELLS; RETINAL DYSTROPHIES; SIBLINGS;

EID: 84855411632     PISSN: 01460404     EISSN: 15525783     Source Type: Journal    
DOI: 10.1167/iovs.11-8187     Document Type: Article

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