title: Enhanced S-cone syndrome with subfoveal neovascularization.
abstract: OBJECTIVE
  To report a case of enhanced S-cone syndrome associated with subfoveal neovascularization.
  
  
  METHODS
  Observational case report.
  
  
  METHODS
  A 23-year-old man, who was first examined at age 9 years, was found to have enhanced S-cone syndrome by clinical, electrophysiological, and molecular genetic examinations.
  
  
  RESULTS
  At 9 years of age, a subfoveal neovascularization was present in his right eye and corrected visual acuity was RE: 0.15 and LE: 1.0. After he was 20 years old, cystoid changes in the macula of the left eye appeared and visual acuity, in the left eye, decreased from 1.0 to 0.02.
  
  
  CONCLUSIONS
  The clinical course of enhanced S-cone syndrome is progressive, and we suggest that the subretinal neovascularization is a phenotypic variation of enhanced S-cone syndrome.
authors.affiliation: Department of Ophthalmology, Nagoya University School of Medicine, Japan. makonaka@med.nagoya-u.ac.jp
authors.forename: Makoto
authors.initials: M
authors.lastname: Nakamura
authors.forename: Yoshihiro
authors.initials: Y
authors.lastname: Hotta
authors.forename: Chang-Hua
authors.initials: CH
authors.lastname: Piao
authors.forename: Mineo
authors.initials: M
authors.lastname: Kondo
authors.forename: Hiroko
authors.initials: H
authors.lastname: Terasaki
authors.forename: Yozo
authors.initials: Y
authors.lastname: Miyake
mesh_terms: D000328:Adult; D004252:DNA Mutational Analysis; D005451:Fluorescein Angiography; D005584:Fovea Centralis / Q000473:pathology*; D006801:Humans; D008269:Macular Edema / Q000235:genetics; D008297:Male; D009755:Night Blindness / Q000175:diagnosis / Q000235:genetics*; D057093:Orphan Nuclear Receptors; D017354:Point Mutation; D018160:Receptors, Cytoplasmic and Nuclear / Q000235:genetics; D017949:Retinal Cone Photoreceptor Cells / Q000473:pathology*; D015861:Retinal Neovascularization / Q000175:diagnosis / Q000235:genetics*; D013577:Syndrome; D014157:Transcription Factors / Q000235:genetics; D014792:Visual Acuity
chemical_list: C403073:NR2E3 protein, human; D057093:Orphan Nuclear Receptors; D018160:Receptors, Cytoplasmic and Nuclear; D014157:Transcription Factors