Recruiting
Universal Rare Gene Study: A Registry and Natural History Study of Retinal Dystrophies Associated With Rare Disease-Causing Genetic Variants
This is an international, multicenter study with two components:
Registry
* A standardized genetic screening and a prospective, standardized, cross-sectional clinical data collection
* Enrollment is open to all genes on the RD Rare Gene List
Natural History Study
* A prospective, standardized, longitudinal Natural History Study
* Enrollment opens gene-by-gene, based on funding and within-gene Registry enrollment The study objectives are as follows.
Registry Objectives
1. Genotype Characterization
2. Cross-Sectional Phenotype Characterization (within gene)
3. Establish a Link to My Retina Tracker Registry (MRTR)
4. Ancillary Exploratory Studies - Pooling of Genes
Natural History Study Objectives
1. Natural History (within gene)
2. Structure-Function Relationship (within gene)
3. Risk Factors for Progression (within gene)
4. Ancillary Exploratory Studies - Pooling of Genes