10 results
The main objective is to describe the interactions between physical sensory stimulations and high-level prior assumptions that give rise to visual perception. In two secondary objectives, we will advance novel model-based neuroimaging data-analysis…
The goal of this study is to collect and clinically characterize a large cohort of patients with hereditary retinal dystrophies in the Netherlands. The study cohort will be used to identify the genetic causes underlying these diseases, and to…
To perform an external (geographic and temporal) validation of predictive models for estimating the probability of PVR following primary RD using a subgroup of SNPs from a total of 197 in 30 candidate genes previously studied.
The aim of this study is to compare the results of 2 methods for screening of eye function in children with the standard investigation by the orthoptist. The outcome of the tests and the time involved will be compared.Two screening methods will be…
The purpose of the study is to identify the molecular defects of CORD, to evaluate the clinical course as a function of the molecular defect, and to assess the modifying role of environmental factors.
1. To investigate the relative contributions of different ocular abnormalities to the visual function.2. To investigate the precise relationship between ocular pigmentation and the development of the visual system abnormalities.
Investigate clinical anomalies in the intraocular tissues, especially the accommodation system, in RDEB patients.
Connection Interrupted: Genetic causes and clinical characteristics of hereditary optic neuropathies
The goal of this study is to identify the genetic causes underlying hereditary optic neuropathies and establish genotype-phenotype correlations. This will lead to more reliable prognosis predictions, better genetic counselling and hopefully form a…
The goal is to study the genetic background of childhood glaucoma in the Netherlands. We aim to study which mutations play a role in the pathogenesis of childhood glaucoma in the Netherlands and their prevalence. We will study the genetic mutations…
The study will help us to determine 1. the necessary type of (combined) examinations and 2. the sample size that is essential to evaluate (future) genetic therapy in Usher syndrome type 2 and USH2A associated nsRP.