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Phenotype Correlates Genotype of Inherited Retina Dystrophies
Patients with retina dystrophies (retinitis pigmentosa, cone\>rods dystrophies, Usher and syndromic) will be correlated with genotype and validate inheritance mode by segregation analysis.
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.
Age
0 - 90 years
Sex
ALL
Healthy Volunteers
Yes
Retina and Genomics Institute
Mérida, Yucatán, Mexico
Start Date
August 1, 2009
Primary Completion Date
June 13, 2019
Completion Date
September 30, 2025
Last Updated
June 19, 2019
17,000
ESTIMATED participants
Retina Analysis-mosaic
DIAGNOSTIC_TEST
Autofluorescence
DIAGNOSTIC_TEST
OCT- 1 micra
DIAGNOSTIC_TEST
Genotype analysis
PROCEDURE
Lead Sponsor
MejoraVisionMD
Collaborators
NCT05926583
NCT07174726
Data Source & Attribution
This clinical trial information is sourced from ClinicalTrials.gov, a service of the U.S. National Institutes of Health.
Modifications: This data has been reformatted for display purposes. Eligibility criteria have been parsed into inclusion/exclusion sections. Location data has been geocoded to enable distance-based search. For the authoritative and most current information, please visit ClinicalTrials.gov.
Neither the United States Government nor Clareo Health make any warranties regarding the data. Check ClinicalTrials.gov frequently for updates.
View ClinicalTrials.gov Terms and ConditionsNCT07292987