Phenotype Correlates Genotype of Inherited Retina Dystrophies, Retinitis Pigmentosa, Con>Rod Dystrophies.
- Conditions
- Usher SyndromesCone DystrophyRetina; DystrophyRetinitis Pigmentosa
- Registration Number
- NCT03990727
- Lead Sponsor
- MejoraVisionMD
- 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.
Recruitment & Eligibility
- Status
- RECRUITING
- Sex
- All
- Target Recruitment
- 17000
- Diagnosis of inherited retina dystrophy or retinitis pigmentosa
- Must be able to perform all study tests.
- Must be able to visit every year.
- Not willing to visit every year.
Study & Design
- Study Type
- OBSERVATIONAL
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method Gene-molecular variation to correlate with phenotype based on autofluorescence, retina analysis, 8 years Molecular variation correlates with specific phenotype based on autofluorescence, retina analysis, macular coherence tomography.
- Secondary Outcome Measures
Name Time Method Preliminary Natural History 5 years Ocular exam, retina analysis, autofluorescence and OCTs will be described in time frame
Trial Locations
- Locations (1)
Retina and Genomics Institute
🇲🇽Merida, Yucatan, Mexico
Retina and Genomics Institute🇲🇽Merida, Yucatan, MexicoAL Villanueva, MDContact9992233623dr.villanueva@mejoravisionmd.comGelly Cuevas, MSContact01 (999) 4060586alva@mejoravisionmd.com