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
• Willing to participate in the study and able to communicate consent during the consent process
• Willing and able to complete all applicable Registry/Screening Visit assessments
• Age ≥ 4 years
• Must have a single gene on the RD Rare Gene List which meets one of the Genetic Screening Criteria below based on a genetic report\* from a clinically certified lab (or from a research lab which has been approved by the study Genetics Committee):
⁃ Inheritance Pattern is Recessive and has at least 2 disease-causing variants which are homozygous or heterozygous in trans
⁃ OR
⁃ Inheritance Pattern is Recessive and has 2 disease-causing variants with unknown phase and meets all the following additional informatic criteria that is consistent with likely segregation in trans:
• Investigator confirms genotype and phenotype are consistent with autosomal recessive inheritance
• The 2 disease-causing variants have not been reported in cis in variant databases
• No additional potentially pathogenic variants were found on the gene (and the sequencing data for the gene were sufficiently robust to detect any additional potentially pathogenic variants)
• No potentially pathogenic variants were found in other common, likely candidate genes for the proposed condition
⁃ OR
⁃ Inheritance Pattern is Dominant, X-linked, or Mitochondrial and has at least 1 disease-causing variant
⁃ Both eyes must meet the following criteria at the Registry/Screening Visit to enroll into the genetic screening phase:
• Both eyes must have a clinical diagnosis of retinal dystrophy
• Both eyes must permit good quality photographic imaging (e.g., but not limited to, clear ocular media, adequate pupil dilation, stable fixation)