Genotype-phenotype correlation and longitudinal course in ten families with Best vitelliform macular dystrophy

Graefe's Archive for Clinical and Experimental Ophthalmology

Volumn 244, Issue 11, 2006, Pages 1453-1466

  Wabbels, B ^a,b   Preising, M N ^a,b   Kretschmann, U ^a,b   Demmler, A ^a,b   Lorenz, B ^a,b  

^a UNIVERSITY OF REGENSBURG   (Germany)

^b UNIVERSITY OF BONN   (Germany)

Author keywords

Bestrophin; Electrooculogram; Fundus autofluorescence; Juvenile vitelliform macular dystrophy; Longitudinal course; Optical coherence tomography

Indexed keywords

BESTROPHIN; CALCIUM CHANNEL; CARRIER PROTEIN; CHLORIDE CHANNEL; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; AUTOFLUORESCENCE; CLINICAL ARTICLE; CLINICAL EXAMINATION; CONTROLLED STUDY; DISEASE COURSE; ELECTROOCULOGRAPHY; ELECTROPHYSIOLOGY; FEMALE; GENE FREQUENCY; GENE MUTATION; GENE SEQUENCE; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOTE; HUMAN; LONGITUDINAL STUDY; MALE; MUTATIONAL ANALYSIS; OPTICAL COHERENCE TOMOGRAPHY; PRIORITY JOURNAL; RETINA HEMORRHAGE; RETINA MACULA VITELLIFORM DEGENERATION; SCAR FORMATION; SCHOOL CHILD; SEQUENCE ANALYSIS; SINGLE STRAND CONFORMATION POLYMORPHISM;

ADOLESCENT; ADULT; CHILD; CHLORIDE CHANNELS; DNA MUTATIONAL ANALYSIS; ELECTROOCULOGRAPHY; ELECTRORETINOGRAPHY; EYE PROTEINS; FEMALE; FLUORESCENCE; GENOTYPE; HUMANS; LONGITUDINAL STUDIES; MACULAR DEGENERATION; MALE; MIDDLE AGED; MUTATION; PEDIGREE; PHENOTYPE; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; TOMOGRAPHY, OPTICAL COHERENCE; VISUAL ACUITY;

EID: 33750991867     PISSN: 0721832X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00417-006-0286-6     Document Type: Article

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