Late-onset central areolar choroidal dystrophy caused by a heterozygous frame-shift mutation affecting codon 307 of the peripherin/RDS gene

Ophthalmic Genetics

Volumn 27, Issue 4, 2006, Pages 139-144

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

^a UNIVERSITY HOSPITAL WÜRZBURG   (Germany)

^b UNIVERSITY OF WÜRZBURG   (Germany)

^c UNIVERSITY OF REGENSBURG   (Germany)

Author keywords

Age related macular degeneration (AMD); Central areolar choroidal dystrophy (CACD); Codon 307; Frame shift mutation; Peripherin RDS gene

Indexed keywords

PERIPHERIN;

AGED; ANAMNESIS; ARTICLE; AUTOFLUORESCENCE; CARBOXY TERMINAL SEQUENCE; CASE REPORT; CENTRAL AREOLAR CHOROIDAL DYSTROPHY; CLINICAL FEATURE; CODON; COLOR VISION DEFECT; DIAGNOSTIC PROCEDURE; ELECTRORETINOGRAPHY; EYE FUNDUS; FEMALE; FLUORESCENCE ANGIOGRAPHY; FRAMESHIFT MUTATION; GENE DELETION; GENETIC ANALYSIS; GENETIC IDENTIFICATION; HETEROZYGOTE; HUMAN; OPHTHALMOLOGY; PERIMETRY; PRIORITY JOURNAL; RETINA MACULA DEGENERATION; RETINA MACULA LUTEA; RETINOPATHY; SLIT LAMP;

AGED; CHOROID DISEASES; CODON; FEMALE; FLUORESCEIN ANGIOGRAPHY; FRAMESHIFT MUTATION; HETEROZYGOTE; HETEROZYGOTE DETECTION; HUMANS; INTERMEDIATE FILAMENT PROTEINS; MEMBRANE GLYCOPROTEINS; NERVE TISSUE PROTEINS; RETINAL DEGENERATION; SIBLINGS; VISUAL FIELDS;

EID: 33845501899     PISSN: 13816810     EISSN: 17445094     Source Type: Journal    
DOI: 10.1080/13816810600976822     Document Type: Article

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