9 results
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…
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…
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…
To compare different methods for visual field testing in young and/or neurologically impaired children, to determine which test is most useful in detecting visual field defects.
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…