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Creation of disease model systems to understand and correct genetic diseases through gene or other therapy using iPS cells derived from somatic cells: *the iPS study*
Addendum A: "Informatie voor proefpersonen en bijbehorend toestemmingsformulier voor de vervaardiging en het gebruik van geïnduceerde Pluripotente Stamcellen (iPS cellen) voor patiënten met een cardiovasculaire aandoening."

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…

DNA diagnostics in Congenital Stationary Nightblindness (CSNB).

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…

Functional Retinal Imaging of Inherited Retinal Diseases

The goal of this study is the development of a clinically verified functional imaging technique of the retina.

Long-term clinical follow-up study of patients and families with choroideremia for future clinical trials

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.

Differentiating characteristics of autism and visual impairment in people with intellectual disabilities and deafblindness.

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…

Screening for problems in eyes of children study (SPECS)

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…

Universal Rare Gene Study: A Registry and Natural History
Study of Retinal Dystrophies Associated with Rare Disease-Causing Genetic Variants

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…

A Multicenter, Prospective, Longitudinal, Observational Study in Children and Adults with Stargardt Disease Secondary to Mutation in the ABCA4 Gene

Primary Objectives• To evaluate prognostic factors of disease progression in subjects with Stargardt disease secondary to mutation in the ABCA4 gene • To further characterize the STGD1 patient population for future interventional clinical studies

NEW characterizing rate of progression in USHer syndrome (NEW-USH) study
a natural history study in patients with Usher syndrome

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.

Rate of Progression in EYS Related Retinal Degeneration

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…

Rate of Progression of PCDH15-Related Retinal Degeneration in Usher Syndrome 1F (RUSH1F)

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…

Study to Evaluate the Feasibility and Variability of Select Vision Assessments in Subjects with a Leber's Congenital Amaurosis (LCA) Type Phenotype

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…