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Objectives To investigate retinal microstructure of patients affected with malattia leventinese (MLVT) and mutation in the EFEMP1 gene using high-resolution optical coherence tomography (OCT).
Methods Patients diagnosed with MLVT received a comprehensive eye exam, full-field and multifocal electroretinogram testing and imaging with a high-resolution Fourier domain OCT (Fd-OCT, UC Davis Medical Center, Davis, USA; axial resolution: 4.5 m, acquisition speed: 9 frames s-1, 1000 A scans s-1) combined with a flexible scanning head (Bioptigen Inc. Durham, NC, USA).
Results Two related patients aged 30 and 60 years, with MLVT and identified c.R345W ... (Read Full Article)
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