Disruption of the human cone photoreceptor mosaic from a defect in NR2E3 transcription factor function in young adults

Graefe's Archive for Clinical and Experimental Ophthalmology

Volumn 251, Issue 10, 2013, Pages 2299-2309

  Park, Sung Pyo ^a,b   Hong, In Hwan ^b   Tsang, Stephen H ^a,c   Lee, Winston ^a   Horowitz, Jason ^a   Yzer, Suzanne ^d   Allikmets, Rando ^a,c   Chang, Stanley ^a  

^a New York Presbyterian Hospital   (United States)

^b Hallym University Medical Center   (South Korea)

^c NewYork Presbyterian Hospital   (United States)

^d ROTTERDAM EYE HOSPITAL   (Netherlands)

Author keywords

Adaptive optics scanning laser ophthalmoscopy (AO SLO); Enhanced S cone syndrome (ESCS); Photoreceptor layer

Indexed keywords

TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR NR2E3; UNCLASSIFIED DRUG;

ADULT; ARTICLE; AUTOFLUORESCENCE IMAGING; CASE REPORT; CLINICAL EXAMINATION; ELECTRORETINOGRAPHY; ENHANCED S CONE SYNDROME; FEMALE; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; MUTATIONAL ANALYSIS; NR2E3 GENE; OPHTHALMOSCOPY; PHOTORECEPTOR; PRIORITY JOURNAL; PROTEIN FUNCTION; RETINA CONE; RETINA DISEASE; SEQUENCE ANALYSIS; SPECTRAL DOMAIN OPTICAL COHERENCE TOMOGRAPHY; VISUAL ACUITY;

ADULT; ELECTRORETINOGRAPHY; EYE DISEASES, HEREDITARY; EYE PROTEINS; FEMALE; FLUORESCEIN ANGIOGRAPHY; HUMANS; MULTIMODAL IMAGING; MUTATION; ORPHAN NUCLEAR RECEPTORS; RETINA; RETINAL CONE PHOTORECEPTOR CELLS; RETINAL DEGENERATION; TOMOGRAPHY, OPTICAL COHERENCE; TRANSCRIPTION FACTORS; VISION DISORDERS;

EID: 84890561910     PISSN: 0721832X     EISSN: 1435702X     Source Type: Journal    
DOI: 10.1007/s00417-013-2296-5     Document Type: Article

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