Phenotype Correlates Genotype of Inherited Retina Dystrophies
Overview
- Phase
- Not Applicable
- Intervention
- Not specified
- Conditions
- Retinitis Pigmentosa
- Sponsor
- MejoraVisionMD
- Enrollment
- 17000
- Locations
- 1
- Primary Endpoint
- Gene-molecular variation to correlate with phenotype based on autofluorescence, retina analysis,
- Status
- Recruiting
- Last Updated
- 6 years ago
Overview
Brief Summary
Patients with retina dystrophies (retinitis pigmentosa, cone>rods dystrophies, Usher and syndromic) will be correlated with genotype and validate inheritance mode by segregation analysis.
Detailed Description
Patients with retina dystrophies (retinitis pigmentosa, cone\>rods dystrophies, Usher and syndromic, etc.) will be correlated with genotype and validate inheritance mode by segregation analysis. Ocular exam of proband, parents and two unaffected siblings is needed, retina analysis, autofluorescence and ocular coherence tomography (OCT) are needed as well as family map. Blood samples 10ml max blood extraction will be sent and genotype will be analyzed.
Investigators
Eligibility Criteria
Inclusion Criteria
- •Diagnosis of inherited retina dystrophy or retinitis pigmentosa
- •Must be able to perform all study tests.
- •Must be able to visit every year.
Exclusion Criteria
- •Not willing to visit every year.
Outcomes
Primary Outcomes
Gene-molecular variation to correlate with phenotype based on autofluorescence, retina analysis,
Time Frame: 8 years
Molecular variation correlates with specific phenotype based on autofluorescence, retina analysis, macular coherence tomography.
Secondary Outcomes
- Preliminary Natural History(5 years)