Archiv článků

Active Clinical Trials Testing New Therapies for Stargardt Disease Journal > /cs/journal/2016/1/5
Purpose: To provide information on currently ongoing clinical trials for Stargardt disease. Methods: We have searched the clinical trial register (www.clinicaltrials.gov) for the keyword „Stargardt“ and list active ongoing studies. Results: There are currently eight registered clinical trials enrolling patients with Stargardt disease; all in phase I or II aiming at four mechanisms of action: inhib...
Molecular Genetic Cause of Achromatopsia in Two Patients of Czech Origin Journal > /cs/journal/2019/5/5
Introduction: Achromatopsia is an autosomal recessive retinal disorder with an estimated prevalence ranging from 1 in 30.000 to 50.000. The disease is caused by mutations in six different genes. The aim of the study was to perform molecular genetic analysis in 11 unrelated probands with a clinical diagnosis of achromatopsia and to describe clinical findings in those that were found to carry bialle...