Expanded clinical spectrum of enhanced S-cone syndrome

Suzanne Yzer, Irene Barbazetto, Rando Allikmets, Mary J van Schooneveld, Arthur Bergen, Stephen H Tsang, Samuel G Jacobson, Lawrence A Yannuzzi

Research output: Contribution to journalArticleResearchpeer-review


IMPORTANCE: 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.

DESIGN: Retrospective, noncomparative case series of 31 patients examined between 1983 and 2012.

SETTING: Academic and private ophthalmology practices specialized in retinal dystrophies.

PARTICIPANTS: A cohort of patients diagnosed with ESCS and harboring known NR2E3 mutations.

INTERVENTION: Patients had ophthalmic examinations including visual function testing that led to the original diagnosis.

MAIN OUTCOMES AND MEASURES: 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 AND RELEVANCE: 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.

Original languageEnglish
Pages (from-to)1324-30
Number of pages7
JournalJAMA Ophthalmology
Issue number10
Publication statusPublished - Oct 2013


  • Adolescent
  • Adult
  • Aged
  • Child
  • Child, Preschool
  • Electroretinography
  • Eye Diseases, Hereditary/diagnosis
  • Female
  • Fibrosis
  • Fluorescein Angiography
  • Humans
  • Male
  • Middle Aged
  • Orphan Nuclear Receptors/genetics
  • Photic Stimulation
  • Retinal Cone Photoreceptor Cells/pathology
  • Retinal Degeneration/diagnosis
  • Retinal Pigment Epithelium/pathology
  • Retrospective Studies
  • Tomography, Optical Coherence
  • Vision Disorders/diagnosis
  • Visual Acuity
  • Young Adult


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