Atypical Mild Enhanced S-Cone Syndrome with Novel Compound Heterozygosity of the NR2E3 Gene

American Journal of Ophthalmology

Volumn 144, Issue 1, 2007, Pages 157-159

  Lam, Byron L ^a   Goldberg, Jeffrey L ^a   Hartley, Kristen L ^a   Stone, Edwin M ^b   Liu, Mu ^a  

^a UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF IOWA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CLINICAL EXAMINATION; CONTROLLED STUDY; ENHANCED S CONE SYNDROME; EXON; FEMALE; GENE MUTATION; GENETIC ANALYSIS; HETEROZYGOSITY; HUMAN; OBSERVATIONAL STUDY; OPTICAL COHERENCE TOMOGRAPHY; PRIORITY JOURNAL; RETINA CONE; RETINA DISEASE; RETINA ROD; SCHOOL CHILD; SEQUENCE ANALYSIS; SEQUENCE HOMOLOGY; SUBRETINAL NEOVASCULARIZATION; VISUAL ACUITY; VISUAL IMPAIRMENT;

CHILD; CHOROIDAL NEOVASCULARIZATION; CONES (RETINA); ELECTRORETINOGRAPHY; FEMALE; HETEROZYGOTE; HUMANS; MODELS, MOLECULAR; MUTATION; OPSIN; PHOTIC STIMULATION; POLYMERASE CHAIN REACTION; RECEPTORS, CYTOPLASMIC AND NUCLEAR; RETINAL DEGENERATION; SYNDROME; TOMOGRAPHY, OPTICAL COHERENCE; TRANSCRIPTION FACTORS; VISUAL ACUITY;

EID: 34250762012     PISSN: 00029394     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajo.2007.03.012     Document Type: Article

References (4)

1. Hood D.C., Cideciyan A.V., Roman A.J., and Jacobson S.G. Enhanced S-cone syndrome: evidence for an abnormally large number of S-cones. Vision Res 35 (1995) 1473-1481
2. Haider N.B., Jacobson S.G., Cideciyan A.V., et al. Mutation of a nuclear receptor gene, NR2E3, causes enhanced S-cone syndrome, a disorder of retinal cell fate. Nat Genet 24 (2000) 127-131
3. Hayashi T., Gekka T., Goto-Omoto S., et al. Novel NR2E3 mutations (R104Q, R334G) associated with a mild form of enhanced S-cone syndrome demonstrate compound heterozygosity. Ophthalmology 112 (2005) 2115-2122
4. Schwede T., Kopp J., Guex N., and Peitsch M.C. SWISS-MODEL: an automated protein homology-modeling server. Nucleic Acids Res 31 (2003) 3381-3385