Phenotype Correlates Genotype of Inherited Retina Dystrophies, Retinitis Pigmentosa, Con>Rod Dystrophies.

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Usher syndrome
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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