A phenotypic study of congenital stationary night blindness (CSNB) associated with mutations in the GRM6 gene

Acta Ophthalmologica

Volumn 90, Issue 3, 2012, Pages

  Sergouniotis, Panagiotis I ^a,b   Robson, Anthony G ^b   Li, Zheng ^a,c   Devery, Sophie ^b   Holder, Graham E ^b   Moore, Anthony T ^a,b   Webster, Andrew R ^a,b  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b MOORFIELDS EYE HOSPITAL   (United Kingdom)

^c HUAZHONG UNIVERSITY OF SCIENCE AND TECHNOLOGY   (China)

Author keywords

bipolar cell; congenital stationary night blindness; CSNB; electrophysiology; genetics; GRM6; inherited retinal disease

Indexed keywords

GENOMIC DNA; METABOTROPIC RECEPTOR 6;

ADULT; AGED; AMBLYOPIA; AMINO ACID SUBSTITUTION; ARTICLE; ASTIGMATISM; AUTOSOMAL RECESSIVE DISORDER; CHILD; CLINICAL ARTICLE; CLINICAL EXAMINATION; CLINICAL FEATURE; COHORT ANALYSIS; CONGENITAL STATIONARY NIGHT BLINDNESS; ELECTRORETINOGRAM; EXON; FEMALE; GENE; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GRM6 GENE; HUMAN; IMAGING; INTRON; MALE; MOLECULAR PATHOLOGY; MYOPIC ASTIGMATISM; MYOPIC DEGENERATION; MYOPIC MACULOPATHY; NIGHT BLINDNESS; NUCLEIC ACID BASE SUBSTITUTION; NUCLEOTIDE SEQUENCE; NYSTAGMUS; OPHTHALMOSCOPY; PHENOTYPE; PHOTORECEPTOR DYSFUNCTION; PHOTOTRANSDUCTION; PRIORITY JOURNAL; REFRACTION ERROR; RETINA MACULOPATHY; SCHOOL CHILD; SENSORY SYSTEM ELECTROPHYSIOLOGY; SEQUENCE ANALYSIS; VISUAL ACUITY; VISUAL DISORDER;

ADOLESCENT; ADULT; AGED; CHILD; DARK ADAPTATION; ELECTRORETINOGRAPHY; EXONS; FEMALE; HUMANS; INTRONS; MALE; MIDDLE AGED; MUTATION; MYOPIA; NIGHT BLINDNESS; PHENOTYPE; PHOTIC STIMULATION; RECEPTORS, METABOTROPIC GLUTAMATE; RETINAL BIPOLAR CELLS; VISION, OCULAR; VISUAL ACUITY;

EID: 84860484870     PISSN: 1755375X     EISSN: 17553768     Source Type: Journal    
DOI: 10.1111/j.1755-3768.2011.02267.x     Document Type: Article

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