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The Molecular Genetic Cause and Clinical Findings in two Probands with Stargardt Disease Journal > /en/journal/2014/6/4
Purpose: The aim of our study was to describe the phenotype and to perform molecular genetic investigation in two probands of Czech origin diagnosed with Stargardt disease (STGD). Methods: Both males underwent ocular examination including assessment by high-resolution spectral domain optical coherence tomography (SD-OCT). DNA was isolated from venous blood. Mutation detection was performed using t...