Genotype and phenotype of 101 dutch patients with congenital stationary night blindness

Ophthalmology

Volumn 120, Issue 10, 2013, Pages 2072-2081

  Bijveld, Mieke M C ^a,b   Florijn, Ralph J ^c   Bergen, Arthur A B ^c,d   Van Den Born, L Ingeborgh ^e   Kamermans, Maarten ^c,d   Prick, Liesbeth ^d   Riemslag, Frans C C ^a,e   Van Schooneveld, Mary J ^c,d   Kappers, Astrid M L ^b   Van Genderen, Maria M ^a  

^a Institute for the Visually Handicapped Bartimeus   (Netherlands)

^b VU UNIVERSITY AMSTERDAM   (Netherlands)

^c NETHERLANDS INSTITUTE FOR NEUROSCIENCE   (Netherlands)

^d ACADEMIC MEDICAL CENTER   (Netherlands)

^e ROTTERDAM EYE HOSPITAL   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

CACNA1F PROTEIN; CALCIUM BINDING PROTEIN; CALCIUM BINDING PROTEIN 4; G PROTEIN COUPLED RECEPTOR; G PROTEIN COUPLED RECEPTOR 179; METABOTROPIC RECEPTOR 6; NYX PROTEIN; PROTEIN; TRANSIENT RECEPTOR POTENTIAL CHANNEL M1; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; B WAVE; CHILD; COLOR VISION DEFECT; CONGENITAL DISORDER; CONGENITAL STATIONARY NIGHT BLINDNESS; CONTROLLED CLINICAL TRIAL; CONTROLLED STUDY; DARK ADAPTATION; ELECTRORETINOGRAM; EYE EXAMINATION; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC CODE; GENOTYPE; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HYPERMETROPIA; LONGITUDINAL STUDY; MAJOR CLINICAL STUDY; MALE; MESOPIC VISION; MULTICENTER STUDY; NIGHT BLINDNESS; NUCLEOTIDE SEQUENCE; NYSTAGMUS; ORTHOPTICS; PHENOTYPE; PHOTOPHOBIA; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; STRABISMUS; VISUAL ACUITY; VISUAL THRESHOLD;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; ELECTRORETINOGRAPHY; EYE DISEASES, HEREDITARY; EYE PROTEINS; FEMALE; GENETIC DISEASES, X-LINKED; GENOTYPE; HUMANS; INFANT; MALE; MIDDLE AGED; MUTATION; MYOPIA; NETHERLANDS; NIGHT BLINDNESS; PHENOTYPE; REFRACTIVE ERRORS; SENSORY THRESHOLDS; VISUAL ACUITY; YOUNG ADULT;

EID: 84885023333     PISSN: 01616420     EISSN: 15494713     Source Type: Journal    
DOI: 10.1016/j.ophtha.2013.03.002     Document Type: Article

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