Case report: Autofluorescence imaging and phenotypic variance in a sibling pair with early-onset retinal dystrophy due to defective CRB1 function

Current Eye Research

Volumn 34, Issue 5, 2009, Pages 395-400

  Tosi, Joaquin ^a   Tsui, Ilene ^c   Lima, Luiz H ^b   Wang, Nan Kai ^a,d   Tsang, Stephen H ^d,e  

^a Howard Hughes Medical Institute   (United States)

^b EAR AND THROAT HOSPITAL   (United States)

^c WELLESLEY COLLEGE   (United States)

^d CHANG GUNG MEMORIAL HOSPITAL   (Taiwan)

^e Department of Neurology and the Taub Institute for Research on Alzheimer's Disease and the Aging Brain   (United States)

Author keywords

Autosomal recessive retinitis pigmentosa; CRB1 gene; Crumbs; Leber congenital amaurosis; Para arteriolar RPE sparing; Type VIII

Indexed keywords

CRB1 PROTEIN; GENE PRODUCT; REGULATOR PROTEIN; SERINE; UNCLASSIFIED DRUG; XANTHOPHYLL; CRB1 PROTEIN, HUMAN; EYE PROTEIN; MEMBRANE PROTEIN; NERVE PROTEIN;

ADOLESCENT; ARTERIOLE; ARTICLE; AUTOFLUORESCENCE IMAGING; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; DISEASE CLASSIFICATION; DNA SEQUENCE; ELECTROPHYSIOLOGY; ELECTRORETINOGRAPHY; EYE FUNDUS; FEMALE; GENE MUTATION; HETEROZYGOSITY; HUMAN; MALE; MEDICAL RECORD; NYSTAGMUS; OPTIC DISK ANOMALY; OPTIC NERVE; OPTICAL COHERENCE TOMOGRAPHY; PHENOTYPIC VARIATION; PHOTORECEPTOR; PIGMENT EPITHELIUM; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN DEFECT; PROTEIN FUNCTION; RETINA DEGENERATION; RETINA DYSTROPHY; RETINA MACULA DEGENERATION; SIBLING; VISUAL ACUITY; FLUORESCENCE; GENETICS; GENOTYPE; HETEROZYGOTE; MUTATION; PATHOLOGY; PHENOTYPE; RECESSIVE GENE; RETINA;

ADOLESCENT; ELECTRORETINOGRAPHY; EYE PROTEINS; FEMALE; FLUORESCENCE; FUNDUS OCULI; GENES, RECESSIVE; GENOTYPE; HETEROZYGOTE; HUMANS; MALE; MEMBRANE PROTEINS; MUTATION; NERVE TISSUE PROTEINS; PHENOTYPE; RETINA; RETINAL DEGENERATION; RETINAL PIGMENT EPITHELIUM; TOMOGRAPHY, OPTICAL COHERENCE;

EID: 67649664203     PISSN: 02713683     EISSN: 14602202     Source Type: Journal    
DOI: 10.1080/02713680902859639     Document Type: Article

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