title: Atypical mild enhanced S-cone syndrome with novel compound heterozygosity of the NR2E3 gene.
abstract: OBJECTIVE
  To report mild enhanced s-cone syndrome (ESCS) associated with a novel heterozygous mutation of the NR2E3 gene.
  
  
  METHODS
  Observational case report.
  
  
  METHODS
  Clinical examination, optical coherence tomography (OCT), electroretinography (ERG), genetic analysis, and protein homology modeling.
  
  
  RESULTS
  Examination of a 9-year-old girl with acute visual loss of the left eye showed visual acuity of 20/30 in the right eye and 20/200 in the left eye; OCT revealed a choroidal neovascular membrane (CNVM) in the left fovea and cystic maculopathy in the right eye. Full-field ERG showed supranormal s-cone responses, reduced rod response, and characteristic ESCS waveform in photopic cone response but not in scotopic bright-flash response. Sequence analysis revealed heterozygous mutations in the NR2E3 gene, c.767C-->T yielding a substitution p.Ala256Val, and a mutation in the splice site before exon 2, c.119-2 A-->C.
  
  
  CONCLUSIONS
  The p.Ala256Val mutation affects the ligand binding domain of the NR2E3 nuclear receptor only, resulting in modestly impaired ESCS ERG results.
authors.affiliation: Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami, Florida 33136, USA. blam@med.miami.edu
authors.forename: Byron L
authors.initials: BL
authors.lastname: Lam
authors.forename: Jeffrey L
authors.initials: JL
authors.lastname: Goldberg
authors.forename: Kristen L
authors.initials: KL
authors.lastname: Hartley
authors.forename: Edwin M
authors.initials: EM
authors.lastname: Stone
authors.forename: Mu
authors.initials: M
authors.lastname: Liu
mesh_terms: D002648:Child; D020256:Choroidal Neovascularization / Q000235:genetics; D004596:Electroretinography; D005260:Female; D006579:Heterozygote; D006801:Humans; D008958:Models, Molecular; D009154:Mutation; D057093:Orphan Nuclear Receptors; D010775:Photic Stimulation; D016133:Polymerase Chain Reaction; D018160:Receptors, Cytoplasmic and Nuclear / Q000235:genetics*; D017949:Retinal Cone Photoreceptor Cells / Q000503:physiopathology*; D012162:Retinal Degeneration / Q000235:genetics* / Q000503:physiopathology; D017299:Rod Opsins / Q000235:genetics*; D013577:Syndrome; D041623:Tomography, Optical Coherence; D014157:Transcription Factors / Q000235:genetics*; D014792:Visual Acuity
chemical_list: C403073:NR2E3 protein, human; D057093:Orphan Nuclear Receptors; D018160:Receptors, Cytoplasmic and Nuclear; D017299:Rod Opsins; D014157:Transcription Factors; C095853:short-wavelength opsin