title: Expanded clinical spectrum of enhanced S-cone syndrome.
abstract: OBJECTIVE
  New funduscopic findings in patients with enhanced S-cone syndrome (ESCS) may help clinicians in diagnosing this rare autosomal recessive retinal dystrophy.
  
  
  OBJECTIVE
  To expand the clinical spectrum of ESCS due to mutations in the NR2E3 gene.
  
  
  METHODS
  Retrospective, noncomparative case series of 31 patients examined between 1983 and 2012.
  
  
  METHODS
  Academic and private ophthalmology practices specialized in retinal dystrophies.
  
  
  METHODS
  A cohort of patients diagnosed with ESCS and harboring known NR2E3 mutations.
  
  
  METHODS
  Patients had ophthalmic examinations including visual function testing that led to the original diagnosis.
  
  
  METHODS
  New fundus features captured with imaging modalities.
  
  
  RESULTS
  New clinical observations in ESCS include (1) torpedo-like, deep atrophic lesions with a small hyperpigmented rim, variably sized and predominantly located along the arcades; (2) circumferential fibrotic scars in the posterior pole with a spared center and large fibrotic scars around the optic nerve head; and (3) yellow dots in areas of relatively normal-appearing retina.
  
  
  CONCLUSIONS
  Enhanced S-cone syndrome has more pleiotropy than previously appreciated. While the nummular type of pigmentation at the level of the retinal pigment epithelium and cystoid or schisis-like maculopathy with typical functional findings remain classic hallmarks of the disease, changes such as circumferential fibrosis of the macula or peripapillary area and "torpedo-like" lesions along the vascular arcades may also direct the clinical diagnosis and focus on screening the NR2E3 gene for a molecular diagnosis.
authors.affiliation: Department of Ophthalmology, Columbia University, New York, New York2Rotterdam Eye Hospital, Rotterdam, the Netherlands.
authors.forename: Suzanne
authors.initials: S
authors.lastname: Yzer
authors.forename: Irene
authors.initials: I
authors.lastname: Barbazetto
authors.forename: Rando
authors.initials: R
authors.lastname: Allikmets
authors.forename: Mary J
authors.initials: MJ
authors.lastname: van Schooneveld
authors.forename: Arthur
authors.initials: A
authors.lastname: Bergen
authors.forename: Stephen H
authors.initials: SH
authors.lastname: Tsang
authors.forename: Samuel G
authors.initials: SG
authors.lastname: Jacobson
authors.forename: Lawrence A
authors.initials: LA
authors.lastname: Yannuzzi
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D002675:Child, Preschool; D004596:Electroretinography; D015785:Eye Diseases, Hereditary / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D005355:Fibrosis; D005451:Fluorescein Angiography; D006801:Humans; D008297:Male; D008875:Middle Aged; D057093:Orphan Nuclear Receptors / Q000235:genetics; D010775:Photic Stimulation; D017949:Retinal Cone Photoreceptor Cells / Q000473:pathology*; D012162:Retinal Degeneration / Q000175:diagnosis* / Q000235:genetics; D055213:Retinal Pigment Epithelium / Q000473:pathology*; D012189:Retrospective Studies; D041623:Tomography, Optical Coherence; D014786:Vision Disorders / Q000175:diagnosis* / Q000235:genetics; D014792:Visual Acuity; D055815:Young Adult
chemical_list: C403073:NR2E3 protein, human; D057093:Orphan Nuclear Receptors