Article
Phenotypic variation in enhanced S-cone syndrome.
Investigative ophthalmology & visual science - 1 May 2008
Audo Isabelle, Michaelides Michel, Robson Anthony G, Hawlina Marko, Vaclavik Veronika, Sandbach Jennifer M, Neveu Magella M, Hogg Chris R, Hunt David M, Moore Anthony T, Bird Alan C, Webster Andrew R, Holder Graham E
Abstract excerpt
PURPOSE: To characterize the clinical, psychophysical, and electrophysiological phenotype of 19 patients with enhanced S-cone syndrome (ESCS) and relate the phenotype to the underlying genetic mutation. METHODS: Patients underwent ophthalmic examination and functional testing including pattern ERG, full-field ERG, and long-duration and short-wavelength stimulation. Further tests were performed in some patients,...
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