Clinical and molecular characterization of enhanced S-cone syndrome in children

JAMA Ophthalmology

Volumn 132, Issue 11, 2014, Pages 1341-1349

  Hull, Sarah ^a,b   Arno, Gavin ^a   Sergouniotis, Panagiotis I ^a,b   Tiffin, Peter ^c   Borman, Arundhati Dev ^a,b   Chandra, Aman ^a,b   Robson, Anthony G ^a,b   Holder, Graham E ^a,b   Webster, Andrew R ^a,b   Moore, Anthony T ^a,b  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b MOORFIELDS EYE HOSPITAL   (United Kingdom)

^c SUNDERLAND EYE INFIRMARY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CARBONATE DEHYDRATASE INHIBITOR; DNA; EYE PROTEIN; NR2E3 PROTEIN, HUMAN; ORPHAN NUCLEAR RECEPTOR;

ADOLESCENT; ARTICLE; AUTOFLUORESCENCE IMAGING; AUTOSOMAL RECESSIVE DISORDER; CHILD; CHILDHOOD DISEASE; CLINICAL ARTICLE; DNA DETERMINATION; ENHANCED S CONE SYNDROME; EYE FUNDUS; FEMALE; FOLLOW UP; FRAMESHIFT MUTATION; GENETIC ANALYSIS; GEOGRAPHIC ORIGIN; HUMAN; HYPERMETROPIA; LOW VISION; MALE; MISSENSE MUTATION; NIGHT BLINDNESS; OPTICAL COHERENCE TOMOGRAPHY; PHENOTYPE; RETINA CONE; RETINA DISEASE; SCHOOL CHILD; SYNDROME; TOPICAL TREATMENT; VISUAL ACUITY; VISUAL ACUITY CHART; ELECTRORETINOGRAPHY; EYE DISEASES, HEREDITARY; FLUORESCENCE ANGIOGRAPHY; GENETICS; MOLECULAR BIOLOGY; MUTATION; NUCLEOTIDE SEQUENCE; PATHOPHYSIOLOGY; PHYSIOLOGY; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; RETINAL DEGENERATION; VISION DISORDERS;

ADOLESCENT; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; ELECTRORETINOGRAPHY; EYE DISEASES, HEREDITARY; EYE PROTEINS; FEMALE; FLUORESCEIN ANGIOGRAPHY; HUMANS; MALE; MOLECULAR BIOLOGY; MUTATION; NIGHT BLINDNESS; ORPHAN NUCLEAR RECEPTORS; PHENOTYPE; POLYMERASE CHAIN REACTION; RETINAL DEGENERATION; TOMOGRAPHY, OPTICAL COHERENCE; VISION DISORDERS; VISUAL ACUITY;

EID: 84911967963     PISSN: 21686165     EISSN: None     Source Type: Journal    
DOI: 10.1001/jamaophthalmol.2014.2343     Document Type: Article

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