High myopia-excavated optic disc anomaly associated with a frameshift mutation in the MYC-binding protein 2 gene (MYCBP2)

American Journal of Ophthalmology

Volumn 159, Issue 5, 2015, Pages 973-979.e2

  Bredrup, Cecilie ^a   Johansson, Stefan ^a,b   Bindoff, Laurence A ^a,b   Sztromwasser, Pawel ^a,b   Kråkenes, Jostein ^a   Mellgren, Anne E C ^a,b   Brurås, Kari R ^a   Lind, Ola ^a   Boman, Helge ^a,b   Knappskog, Per M ^a,b   Rødahl, Eyvind ^a,b  

^a HAUKELAND UNIVERSITY HOSPITAL   (Norway)

^b UNIVERSITY OF BERGEN   (Norway)

Author keywords

[No Author keywords available]

Indexed keywords

MYC BINDING PROTEIN 2; MYC PROTEIN; UNCLASSIFIED DRUG; MYCBP2 PROTEIN, HUMAN; SIGNAL TRANSDUCING ADAPTOR PROTEIN; UBIQUITIN PROTEIN LIGASE;

ARTICLE; AUDIOMETRY; AXIAL LENGTH MEASUREMENT; CASE REPORT; CASE STUDY; CHILD; CLINICAL EXAMINATION; COLOBOMA; COLOR VISION; COLOR VISION DEFECT; DAUGHTER; DISEASE ASSOCIATION; DNA SEQUENCE; EVOKED VISUAL RESPONSE; EXOME; EXON; FATHER; FEMALE; FRAMESHIFT MUTATION; GENOTYPE; HIGH MYOPIA; HUMAN; INTRAOCULAR PRESSURE; INTRON; MALE; NUCLEAR MAGNETIC RESONANCE IMAGING; OBSERVATIONAL STUDY; OPHTHALMOLOGIST; OPHTHALMOSCOPY; OPTIC DISK; OPTIC DISK ANOMALY; OPTIC NERVE; OPTICAL COHERENCE TOMOGRAPHY; PERIMETRY; PRIORITY JOURNAL; PROSPECTIVE STUDY; SCHOOL CHILD; SIBLING; VISUAL ACUITY; VISUAL DISORDER; VISUAL SYSTEM PARAMETERS; ADOLESCENT; CONGENITAL MALFORMATION; DEGENERATIVE MYOPIA; EYE AXIS LENGTH; EYE MALFORMATION; GENETICS; GENOTYPING TECHNIQUE; MIDDLE AGED; PATHOLOGY; PATHOPHYSIOLOGY; PEDIGREE; PHYSIOLOGY; VISUAL FIELD;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADOLESCENT; AXIAL LENGTH, EYE; CHILD; EVOKED POTENTIALS, VISUAL; EXOME; EYE ABNORMALITIES; FEMALE; FRAMESHIFT MUTATION; GENOTYPING TECHNIQUES; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; MYOPIA, DEGENERATIVE; OPTIC DISK; PEDIGREE; PROSPECTIVE STUDIES; TOMOGRAPHY, OPTICAL COHERENCE; UBIQUITIN-PROTEIN LIGASES; VISUAL ACUITY; VISUAL FIELDS;

EID: 84927568385     PISSN: 00029394     EISSN: 18791891     Source Type: Journal    
DOI: 10.1016/j.ajo.2015.01.021     Document Type: Article

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