![]() ![]() The characteristic findings on exam are nummular pigmentary changes along the vascular arcades (Figure 1), found in about 85% of patients. Color vision is typically diminished with the preservation of the tritan axis and incraesed sensitivity to blue light. Visual acuity can range from normal to profoundly impaired, with approximately 30% of patients having a visual acuity of 20/100 or worse. ![]() There is a broad range of disease severity. Other presenting symptoms include refractive accommodative esotropia, nystagmus, decreased visual acuity, hemeralopia, and incidental retinal lesions on examination. HistoryĮSCS typically presents in childhood with nyctalopia. DiagnosisĮlectroretinographic findings are critical in the diagnosis of ESCS showing no rod response both scotopic and photopic ERG wave forms are similar. In rare cases, mutations in the NRL gene, which acts upstream of the NR2E3 transcription factor, can lead to ESCS. During embryology, the malfunctioning NR2E3 transcription factor is hypothesized to result in a differentiation error resulting in too many S cones being produced and no rods. The S cone is one of three types of retinal cones and is the least common cone in the normal human retina. The mutation of the NR2E3 receptor results in a gain of function in S cones. EtiologyĮSCS is a progressive autosomal recessive retinal degeneration caused by a mutation in nuclear receptor subfamily 2, group E, member 3 (NR2E3) gene and rarely in the NRL gene. The characteristic electroretinogram (ERG) findings were first described in 1990 and are important in the diagnosis of this genetic disease. © 2020 American Academy of OphthalmologyĮnhanced S Cone syndrome (ESCS) is a relatively newly described and very rare inherited progressive retinal degeneration that can cause severe vision loss. This fundus image demonstrates the classic nummular pigmented retinal lesions seen in Enhanced S Cone Syndrome. ![]()
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