Phenotype Correlates Genotype of Inherited Retina Dystrophies, Retinitis Pigmentosa, Con>Rod Dystrophies.
Last updated on July 2021Recruitment
- Recruitment Status
- Recruiting
- Estimated Enrollment
- Same as current
Summary
- Conditions
- Cone Dystrophy
- Retina; Dystrophy
- Retinitis Pigmentosa
- Usher Syndromes
- Design
- Observational Model: Family-BasedTime Perspective: Prospective
Participation Requirements
- Age
- Younger than 90 years
- Gender
- Both males and females
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 a...
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.
Tracking Information
- NCT #
- NCT03990727
- Collaborators
- Maisonneuve-Rosemont Hospital
- Retina and Genomics Institute
- Investigators
- Not Provided
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