22 results
Primary Objective: to derive iPSCs from patients with a variety of diseases caused by genetic mutations or genetic predisposition to disease or of unknown origin. The cells will be propagated and differentiated into a variety of somatic cell types…
The main goal of this study is to investigate whether visual perceptual learning, i.e. practicing a challenging visual task and thereby improving performance, transfers to improved reading and search performance in children with visual impairment.…
To investigate the additional value of partial endothelial trepanation (PET) in a deep anterior lamellar keratoplasty (DALK) procedure in terms of efficacy and safety in patients with keratoconus.
The purpose of this study is to investigate the genotype of a large group of CSNB patients for which the phenotype is already known. We hope to increase our understanding of CSNB in order to improve diagnosis, to offer more realistic prognoses and…
The goal of this study is the development of a clinically verified functional imaging technique of the retina.
The purpose of this study is to collect and complement long-term clinical follow-up data from patients and families with choroideremia. We hope to increase our understanding of the clinical course of choroideremia.
Extent the current instrument for assessing autism in deafblind individuals with profound intellectual disability by Hoevenaars-van den Boom et al. (2008; 2009) to a protocol with manual for assessing autism in people with visual impairments, less…
To determine the prevalence of disability glare in RP patientsTo identify the origin(s) of disability glare in RP patientsTo establish the clinical value of straylight measurements in RP patients
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…
Measurement of the growth of the eye of children with unilateral cataract.
• Determine to which extent near visual acuity and crowding improvements are retained at 6 and 12 months after training • Determine transfer of training effects to untrained tasks, in this case reading and fine motor performance.
Primary:To assess the effect of bilateral treatment with AAV5-hRKp.RPGR on functional vision as measured by vision-guided mobility assessment.Secondary:To assess changes after treatment administration in retinal function, functional vision, visual…
To collect long-term, real world data on safety and efficacy of gene therapy with voretigene neparvovec (Luxturna®).
1. To report the natural history of retinal degeneration in patients with biallelic mutations in the EYS gene.2. To identify sensitive structural and functional outcome measures to use for future multicenter clinical trials in EYS-related retinal…
The first goal of the PLING-project is to improve the clinical applicability of the training by developing a home-based app that can be on any Windows or Mac system. The second goal is to optimize training gain by: 1) increasing the number of…
1. To report the natural history of retinal degenaration in patients with biallelic mutations in the PCDH15 gene.2. To identify sensitive structural and functional outcome measures to use for future multicenter clinical trials in PCDH15-related…
PQ-110-004, is designed to evaluate if a mobility course using multiple light levels simulating real world conditions, can detect changes in vision in subjects with a phenotype representative of LCA Type 10 and therefore serves as an assessment tool…
This study has been transitioned to CTIS with ID 2024-511411-25-00 check the CTIS register for the current data. Main objective:To assess the long-term safety and tolerability of AAV5-hRKp.RPGR in individuals with RPGR-XLRPTo assess the long-term…
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…
IRDs are genetically diverse (280 causative genes have been identified to date) (https://sph.uth.edu/retnet/) and have vastly different clinical manifestations, including age of onset, severity of disease, rate of progression, and structural and…