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initial reports of patients with ESCS attributed the unusual ERG to an abnormally functioning rod photoreceptor system with persistent activity under light adaptation [6–8]. Subsequent studies, however, concluded that the ERG was due to supernumerary short-wavelength (“blue”) cone photoreceptors (S-cones) in these patients [1,2,9–11]. Histopathologic analysis of a retina from a human patient with ESCS and extensive retinal degeneration demonstrated an absence of rhodopsin-positive cells and an increase in the number of S-cone opsin-expressing cells. Nevertheless, the overall density of cones was only modestly increased in this patient (approximately 2-fold), suggesting that there might be additional factors that contribute to the very large, light-adapted ERG seen in this disease. In addition to the ERG findings, patients with ESCS have dysmorphic retinas with rosette formation in the outer nuclear layer (ONL) where photoreceptor cell bodies reside, and a slow retinal degeneration that can ultimately lead to complete blindness [12–14]."}
craft-ca-core-ex-dev
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craft-ca-core-dev
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2_test
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