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
Investigator confirms genotype and phenotype are consistent with autosomal recessive inheritance
Current vitreous hemorrhage
Current complications of pathological myopia (for example, but not limited to, myopic maculopathy including atrophy, scar, choroidal neovascularization, schisis) that could inhibit ability to obtain good quality photographic imaging
History of intraocular surgery (for example, but not limited to, cataract surgery, vitrectomy, penetrating keratoplasty, or LASIK) within 3 months of Registry/Screening Visit
Current or any history of confirmed diagnosis of glaucoma (for example, but not limited to, glaucomatous VF changes or nerve changes, or history of glaucoma filtering surgery)
The study population includes patients with gene-related retinal degeneration. The universal registry is open to rare RD genes, to cross-sectionally characterize patients within rare RD genes (mild, moderate, and severe vision loss), so they are ready to be enrolled into a subsequent universal longitudinal natural history study as their gene is selected.
Cohort
Cross-sectional
Not listed
Functional Outcome: Characterize change using Visual field sensitivity measured with quantitative topographic analysis (hill of vision [HOV])
Measured by Static Perimetry (SP) using Octopus 900 Pro
Functional Outcome: Characterize Change Using Early Treatment of Diabetic Retinopathy Study (ETDRS) / HOTV Best Corrected Visual Acuity (BCVA) letter score
Measured by Electronic Visual Acuity (EVA) system or ETDRS/HOTV charts
Functional Outcome: Characterize Change Using Low visual acuity test - for participants unable to see ETDRS letters
Measured by Berkeley Rudimentary Vision Test (BRVT) for Low Visual Acuity
Functional Outcome: Characterize Change Using ETDRS/HOTV best corrected low luminance visual acuity letter score
Measured by Electronic Visual Acuity (EVA) system or ETDRS/HOTV charts
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Jaeb Center for Health Research
Lead sponsor
Foundation Fighting Blindness
Collaborator
