"cone dystrophy with supernormal rod electroretinogram": A comprehensive genotype/phenotype study including fundus autofluorescence and extensive electrophysiology

Retina

Volumn 30, Issue 1, 2010, Pages 51-62

  Robson, Anthony G ^a,c   Webster, Andrew R ^a,c   Michaelides, Michel ^b,c   Downes, Susan M ^d   Cowing, Jill A ^c   Hunt, David M ^c   Moore, Anthony T ^a,c   Holder, Graham E ^a,c  

^a MOORFIELDS EYE HOSPITAL   (United Kingdom)

^b Medical Retina Department   (United Kingdom)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

^d OXFORD EYE HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; POTASSIUM CHANNEL; POTASSIUM CHANNEL KCNV2; UNCLASSIFIED DRUG;

A WAVE; ADOLESCENT; ADULT; ARTICLE; AUTOFLUORESCENCE; AUTOSOMAL RECESSIVE DISORDER; B WAVE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; COLOR VISION DEFECT; CONE DYSTROPHY WITH SUPERNORMAL ROD ELECTRORETINOGRAM; CONTROLLED STUDY; ELECTROPHYSIOLOGY; EYE FUNDUS; FEMALE; GENE MUTATION; GENETIC SCREENING; GENOTYPE PHENOTYPE CORRELATION; HUMAN; MACULAR RETINAL PIGMENT EPITHELIAL ATROPHY; MALE; MYOPIA; NIGHT BLINDNESS; NIGHT VISION; NYSTAGMUS; PHOTOPHOBIA; PHOTOPIC VISION; PRESCHOOL CHILD; RETINA DISEASE; RETINA FOVEA; RETINA MACULA DEGENERATION; SCHOOL CHILD; STANDARD;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; DARK ADAPTATION; ELECTROPHYSIOLOGY; ELECTRORETINOGRAPHY; FLUORESCEIN ANGIOGRAPHY; GENOTYPE; HUMANS; MIDDLE AGED; MUTATION; PHENOTYPE; PHOTIC STIMULATION; POTASSIUM CHANNELS, VOLTAGE-GATED; RETINAL CONE PHOTORECEPTOR CELLS; RETINAL DEGENERATION; RETINAL ROD PHOTORECEPTOR CELLS; VISUAL ACUITY; YOUNG ADULT;

EID: 75149182350     PISSN: 0275004X     EISSN: None     Source Type: Journal    
DOI: 10.1097/IAE.0b013e3181bfe24e     Document Type: Article

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