Fig 5 - uploaded by Donnell Joseph Creel
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14 Clinical and electrophysiological diagnostic findings for Best's disease. (a) Fundus photo of the left eye of the same 46-year-old Caucasian male patient with Best's disease shown in 12, at the vitelliruptive stage with atrophic foveal changes. Note satellite lesions superior and nasal to the disc as well. (b) EOG of a normal control subject. (c) EOG of the patient shown in (a) with an Arden ratio well <1.5, consistent with diagnosis of Best's disease verified molecularly to be due to an E300K BEST1 mutation
Source publication
This chapter summarizes the application of electroretinogram and/or electrooculogram in patients with Stargardt’s disease, fundus flavimaculatus, X-linked retinoschisis, vitelliform macular dystrophy (Best’s disease), pattern dystrophies, macular pattern dystrophy, Doyne’s honeycomb macular dystrophy, occult macular dystrophy, and North Carolina ma...
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Purpose
To analyse the spectrum of clinical features and molecular genetic data in a series of patients carrying likely disease-associated variants in the BEST1 gene.
Methods
Retrospective observational analysis of clinical data extracted from the medical records of visual function, multimodal imaging and electrophysiology of 62 eyes of 31 patient...
