Archive

Active Clinical Trials Testing New Therapies for Stargardt Disease Journal > /en/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...
Dynamic Vitreomacular Traction Journal > /en/journal/2015/1/3
Purpose: To describe clinical findings in patient with dynamic changes of vitreomacular interface and retina. To provide summary of findings about mechanism of accommodation and its potential impact on vitreous and retina. Methods: In 57 year old patient we performed comprehensive ophtalmological examination including spectral domain optical coherent tomography (SD-OCT). We observed the impact of ...
Molecular Genetic Cause of Achromatopsia in Two Patients of Czech Origin Journal > /en/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...
Innovative Strategies for Treating Retinal Diseases Journal > /en/journal/2019/6/1
Objective: The aim of this comprehensive paper is to acquaint the readers with innovative approaches in the treatment of retinal diseases, which could in the coming years to get into clinical practice. Retinal prostheses, retinal pigment epithelial (RPE) transplantation, gene therapy and optogenetics will be described in this paper.Methodology: Describing the basic characteristics and mechanisms o...
Treatment Options for Premacular and Sub-Internal Limiting Membrane Haemorrhage Journal > /en/journal/2021/6/3
Introduction: Premacular hemorrhage (PH) and sub-internal limiting membrane hemorrhage (sub-ILM-H) are among the causes of sudden deterioration of central visual acuity. Anatomical and functional outcomes of different therapeutic options were evaluated retrospectively. Methods: The study included three eyes of three patients (2 females and 1 male). Location of the hemorrhage was determined by spec...
Dynamic Vitreomacular Traction Journal > /en/journal/2015/2/3
Purpose: To describe clinical findings in patient with dynamic changes of vitreomacular interface and retina. To provide summary of findings about mechanism of accommodation and its potential impact on vitreous and retina. Methods: In 57 year old patient we performed comprehensive ophtalmological examination including spectral domain optical coherent tomography (SD-OCT). We observed the impact of ...
Pre-implantation genetic diagnosis for inherited eye diseases Journal > /en/journal/2016/5/1
Objective: Preimplantation genetic diagnosis (PGD) is an established application of genetic testing in the context of in vitro fertilization. PGD is an alternative method to prenatal diagnosis which aims to prevent the transmission of an inherited disorder to the progeny by implanting only embryos that do not carry genetic predisposition for a particular disease. The aim of this study is to provid...
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...