Early-onset stargardt disease: Phenotypic and genotypic characteristics

Ophthalmology

Volumn 122, Issue 2, 2015, Pages 335-344

  Lambertus, Stanley ^a   Van Huet, Ramon A C ^a   Bax, Nathalie M ^a   Hoefsloot, Lies H ^a   Cremers, Frans P M ^a,b   Boon, Camiel J F ^a,c   Klevering, B Jeroen ^a   Hoyng, Carel B ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ABCA4 GENE; ADOLESCENT; ADULT; ARTICLE; AUTOFLUORESCENCE IMAGING; CHILD; CHOROID; DARK ADAPTATION; ELECTRORETINOGRAPHY; EYE FUNDUS; EYE PHOTOGRAPHY; FEMALE; FRAMESHIFT MUTATION; GENE; GENE DELETION; GENE DUPLICATION; GENE MUTATION; GENETIC SCREENING; GENOTYPE; HETEROZYGOTE; HUMAN; MACULAR DEGENERATION; MAJOR CLINICAL STUDY; MALE; MEDICAL HISTORY; MEDICAL RECORD REVIEW; MIDDLE AGED; MUTATIONAL ANALYSIS; ONSET AGE; OPHTHALMOSCOPY; PHENOTYPE; PHOTOPIC VISION; PHOTORECEPTOR; PIGMENT EPITHELIUM; PRIORITY JOURNAL; RETINA FLUORESCEIN ANGIOGRAPHY; SCHOOL CHILD; SPECTRAL DOMAIN OPTICAL COHERENCE TOMOGRAPHY; STARGARDT DISEASE; VISUAL ACUITY; YOUNG ADULT; FLUORESCENCE ANGIOGRAPHY; GENETICS; INFANT; NUCLEOTIDE SEQUENCE; OPTICAL COHERENCE TOMOGRAPHY; PHYSIOLOGY; PRESCHOOL CHILD; RETROSPECTIVE STUDY;

ABC TRANSPORTER; ABCA4 PROTEIN, HUMAN;

ADOLESCENT; ADULT; AGE OF ONSET; ATP-BINDING CASSETTE TRANSPORTERS; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; ELECTRORETINOGRAPHY; FEMALE; FLUORESCEIN ANGIOGRAPHY; GENOTYPE; HUMANS; INFANT; MACULAR DEGENERATION; MALE; MIDDLE AGED; OPHTHALMOSCOPY; PHENOTYPE; RETROSPECTIVE STUDIES; TOMOGRAPHY, OPTICAL COHERENCE; VISUAL ACUITY; YOUNG ADULT;

EID: 84921449302     PISSN: 01616420     EISSN: 15494713     Source Type: Journal    
DOI: 10.1016/j.ophtha.2014.08.032     Document Type: Article

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