Article
Clinical and molecular characterization of enhanced S-cone syndrome in children.
JAMA ophthalmology - 1 Nov 2014
Hull Sarah, Arno Gavin, Sergouniotis Panagiotis I, Tiffin Peter, Borman Arundhati Dev, Chandra Aman, Robson Anthony G, Holder Graham E, Webster Andrew R, Moore Anthony T
Abstract excerpt
IMPORTANCE: Enhanced S-cone syndrome (ESCS) forms part of the differential diagnosis of night blindness in childhood. OBJECTIVE: To report in detail the clinical phenotype and molecular genetic findings in a series of children with ESCS. DESIGN, SETTING AND PARTICIPANTS: Nine children with ESCS from 5 families underwent full ophthalmic examination, electrophysiological testing, and retinal imaging at a genetic...
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