Clinical findings in a multigeneration family with autosomal dominant central areolar choroidal dystrophy associated with an Arg195Leu mutation in the peripherin/RDS gene

Archives of Ophthalmology

Volumn 124, Issue 7, 2006, Pages 1020-1027

  Keilhauer, Claudia N ^a,c   Meigen, Thomas ^a   Weber, Bernhard H F ^b  

^a UNIVERSITY OF WÜRZBURG   (Germany)

^b UNIVERSITY OF REGENSBURG   (Germany)

^c UNIVERSITY HOSPITAL WÜRZBURG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; LEUCINE; PERIPHERIN;

ADOLESCENT; ADULT; ANTERIOR EYE CHAMBER; ARTICLE; AUTOFLUORESCENCE; AUTOSOMAL DOMINANT INHERITANCE; CLINICAL ARTICLE; CLINICAL FEATURE; CODON; COLOR VISION TEST; CONTROLLED STUDY; ELECTRORETINOGRAPHY; EUROPE; EYE FUNDUS; HUMAN; MISSENSE MUTATION; MYDRIASIS; ONSET AGE; OPHTHALMOLOGY; PHENOTYPIC VARIATION; PRIORITY JOURNAL; RETINA MACULA AGE RELATED DEGENERATION; VISUAL ACUITY; VISUAL DISORDER;

ADOLESCENT; ADULT; AGE OF ONSET; ARGININE; CHOROID DISEASES; CODON; DISEASE PROGRESSION; DNA MUTATIONAL ANALYSIS; ELECTRORETINOGRAPHY; FEMALE; FLUORESCEIN ANGIOGRAPHY; GENES, DOMINANT; HUMANS; INTERMEDIATE FILAMENT PROTEINS; LEUCINE; MALE; MEMBRANE GLYCOPROTEINS; NERVE TISSUE PROTEINS; PEDIGREE; POINT MUTATION; VISUAL ACUITY;

EID: 33745848483     PISSN: 00039950     EISSN: 00039950     Source Type: Journal    
DOI: 10.1001/archopht.124.7.1020     Document Type: Article

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