Mutations in the peripherin/RDS gene are an important cause of multifocal pattern dystrophy simulating STGD1/fundus flavimaculatus

British Journal of Ophthalmology

Volumn 91, Issue 11, 2007, Pages 1504-1511

  Boon, Camiel J F ^a   Van Schooneveld, Mary J ^b   Den Hollander, Anneke I ^a,c   Van Lith Verhoeven, Janneke J C ^a   Zonneveld Vrieling, Marijke N ^a   Theelen, Thomas ^a   Cremers, Frans P M ^a,c   Hoyng, Carel B ^a   Klevering, B Jeroen ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^c RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; AUTOFLUORESCENCE; AUTOSOMAL DOMINANT DISORDER; BLOOD SAMPLING; CLINICAL ARTICLE; ELECTROPHYSIOLOGY; EYE EXAMINATION; EYE FUNDUS; EYE FUNDUS FLAVIMACULATUS; FLUORESCENCE ANGIOGRAPHY; GENE; GENE MUTATION; HUMAN; MULTIFOCAL PATTERN DYSTROPHY; OPTICAL COHERENCE TOMOGRAPHY; PERIPHERIN GENE; PHENOTYPE; PRIORITY JOURNAL; PROGNOSIS; RDS GENE; RETINITIS PIGMENTOSA; STARGARDT DISEASE; VISUAL FIELD;

ADULT; ELECTRORETINOGRAPHY; FEMALE; HUMANS; INTERMEDIATE FILAMENT PROTEINS; MALE; MEMBRANE GLYCOPROTEINS; MIDDLE AGED; MUTATION; NERVE TISSUE PROTEINS; PEDIGREE; PHENOTYPE; RETINAL DEGENERATION; VISUAL ACUITY; VISUAL FIELDS;

EID: 35748966739     PISSN: 00071161     EISSN: None     Source Type: Journal    
DOI: 10.1136/bjo.2007.115659     Document Type: Article

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