Article
Clinical and molecular analysis of Stargardt disease with preserved foveal structure and function.
American journal of ophthalmology - 1 Sept 2013
Fujinami Kaoru, Sergouniotis Panagiotis I, Davidson Alice E, Wright Genevieve, Chana Ravinder K, Tsunoda Kazushige, Tsubota Kazuo, Egan Catherine A, Robson Anthony G, Moore Anthony T, Holder Graham E, Michaelides Michel, Webster Andrew R
Abstract excerpt
PURPOSE: To describe a cohort of patients with Stargardt disease who show a foveal-sparing phenotype. DESIGN: Retrospective case series. METHODS: The foveal-sparing phenotype was defined as foveal preservation on autofluorescence imaging, despite a retinopathy otherwise consistent with Stargardt disease. Forty such individuals were ascertained and a full ophthalmic examination was undertaken. Following mutation...
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