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Enhanced S-cone syndrome (ESCS) is a rare autosomal recessive disorder related to mutations in NR2E3. There is early nyctalopia with peripheral field loss and possible macular involvement with loss of central vision.1 Signs include nummular pigmentary deposition at the level of the retinal pigment epithelium (RPE) around the vascular arcades and foveal schisis. There are no rods; most of an increased number of cones are short-wavelength sensitive.2–4 There are pathognomonic electroretinography (ERG) changes. NR2E3 encodes a transcription factor which promotes differentiation and survival …
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