Expanded clinical spectrum of enhanced S-cone syndrome.

@article{Yzer2013ExpandedCS,
  title={Expanded clinical spectrum of enhanced S-cone syndrome.},
  author={Suzanne Yzer and Irene A. Barbazetto and Rando L. Allikmets and Mary J van Schooneveld and Arthur A. B. Bergen and Stephen H Tsang and Samuel G. Jacobson and Lawrence A. Yannuzzi},
  journal={JAMA ophthalmology},
  year={2013},
  volume={131 10},
  pages={1324-30}
}
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… CONTINUE READING

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