The phenotype of severe early childhood onset retinal dystrophy (SECORD) from mutation of RPE65 and differentiation from Leber congenital amaurosis

Investigative Ophthalmology and Visual Science

Volumn 52, Issue 1, 2011, Pages 292-302

  Weleber, Richard G ^a,b   Michaelides, Michel ^a,b,c   Trzupek, Karmen M ^a   Stover, Niamh B ^a   Stone, Edwin M ^d,e  

^a OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c MOORFIELDS EYE HOSPITAL   (United Kingdom)

^d UNIVERSITY OF IOWA   (United States)

^e HOWARD HUGHES MEDICAL INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

FAT DROPLET; ISOMERASE; PROTEIN RPE65; RETINOL ESTER; UNCLASSIFIED DRUG; CARRIER PROTEIN; EYE PROTEIN; RPE65 PROTEIN, HUMAN;

ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DIFFERENTIAL DIAGNOSIS; ELECTRORETINOGRAM; EYE EXAMINATION; FEMALE; GENE MUTATION; GENETIC SCREENING; HUMAN; HUMAN TISSUE; INFANT; LEBER CONGENITAL AMAUROSIS; MALE; MOLECULAR PATHOLOGY; NIGHT VISION; NYSTAGMUS; OPTIC DISK ANOMALY; PERIMETRY; PHENOTYPE; PIGMENT EPITHELIUM; POINT MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; RETINA DYSTROPHY; RETINITIS PIGMENTOSA; SEVERE EARLY CHILDHOOD ONSET RETINA DYSTROPHY; SPECTRAL DOMAIN OPTICAL COHERENCE TOMOGRAPHY; VISUAL ACUITY; ADOLESCENT; CASE REPORT; ELECTRORETINOGRAPHY; GENETICS; MUTATION; OPTICAL COHERENCE TOMOGRAPHY; VISUAL FIELD;

ADOLESCENT; CARRIER PROTEINS; CHILD; CHILD, PRESCHOOL; ELECTRORETINOGRAPHY; EYE PROTEINS; FEMALE; HUMANS; LEBER CONGENITAL AMAUROSIS; MALE; MUTATION; NYSTAGMUS, PATHOLOGIC; OPTIC DISK DRUSEN; PHENOTYPE; RETINAL DYSTROPHIES; TOMOGRAPHY, OPTICAL COHERENCE; VISUAL ACUITY; VISUAL FIELD TESTS; VISUAL FIELDS;

EID: 79952209786     PISSN: 01460404     EISSN: 15525783     Source Type: Journal    
DOI: 10.1167/iovs.10-6106     Document Type: Article

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