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Clinical Trial 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.


Clinical Trial 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 Design


Related Conditions & MeSH terms


NCT number NCT03990727
Study type Observational [Patient Registry]
Source MejoraVisionMD
Contact A Villanueva, MD
Phone 019992233623
Email dr.villanueva@mejoravisionmd.com
Status Recruiting
Phase
Start date August 2009
Completion date September 30, 2025

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