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July 23, 2020

An Examination of the Propositus of Enhanced S-Cone Syndrome 30 Years After Diagnosis

Author Affiliations
  • 1Byers Eye Institute, Department of Ophthalmology, Stanford University School of Medicine, Palo Alto, California
JAMA Ophthalmol. Published online July 23, 2020. doi:10.1001/jamaophthalmol.2020.2556

The enhanced S-cone syndrome (ESCS) was recognized1 30 years ago as a distinct entity in a 10-year-old girl with night blindness who showed absent rod function and no obvious retinal degeneration but unusual large slow electroretinogram (ERG) responses that were similar under scotopic and photopic conditions (Figure 1). Jacobson et al2 determined that these slow responses were blue-sensitive, matching S-cone behavior, which led to recognition of ESCS as a developmental disorder of S-cones with variable degrees of pericentral degeneration and macular cystic change.3 The propositus was at one end of that spectrum, with minimal retinal degeneration and no macular cystoid abnormalities. The patient was homozygous for a small deletion, c.del196–201del6 (p.G66-C67del), in the P-box region of the gene.4

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