Brief Title
Phenotype Correlates Genotype of Inherited Retina Dystrophies, Retinitis Pigmentosa, Con>Rod Dystrophies.
Official Title
Phenotype Correlates Genotype of Inherited Retina Dystrophies
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.
Study Type
Observational [Patient Registry]
Primary Outcome
Gene-molecular variation to correlate with phenotype based on autofluorescence, retina analysis,
Secondary Outcome
Preliminary Natural History
Condition
Retinitis Pigmentosa
Intervention
Retina Analysis-mosaic
Study Arms / Comparison Groups
Retinitis pigmentosa
Description: Any type of retina dystrophy with pigment / retinitis pigmentosa
Publications
* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.
Recruitment Information
Recruitment Status
Diagnostic Test
Estimated Enrollment
17000
Start Date
August 2009
Completion Date
September 30, 2025
Primary Completion Date
June 13, 2019
Eligibility Criteria
Inclusion Criteria: 1. Diagnosis of inherited retina dystrophy or retinitis pigmentosa 2. Must be able to perform all study tests. 3. Must be able to visit every year. Exclusion Criteria: 1) Not willing to visit every year.
Gender
All
Ages
2 Weeks - 90 Years
Accepts Healthy Volunteers
Accepts Healthy Volunteers
Contacts
, 019992233623, [email protected]
Location Countries
Mexico
Location Countries
Mexico
Administrative Informations
NCT ID
NCT03990727
Organization ID
RETMxMap
Responsible Party
Sponsor
Study Sponsor
MejoraVisionMD
Collaborators
Maisonneuve-Rosemont Hospital
Study Sponsor
, ,
Verification Date
June 2019