NCT03990727

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

Phenotype Correlates Genotype of Inherited Retina Dystrophies

• Status: Unknown
• Phase: —
• Study type: Observational
• Enrollment: 17,000 (estimated)
• Sponsor: MejoraVisionMD · Network
• Sex: All
• Age: 2 Weeks – 90 Years
• Healthy volunteers: Accepted

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.

Conditions

• Retinitis Pigmentosa
• Cone Dystrophy
• Usher Syndromes
• Retina; Dystrophy

Interventions

Type	Name	Description
DIAGNOSTIC_TEST	Retina Analysis-mosaic	Fundus retina pattern study
DIAGNOSTIC_TEST	Autofluorescence	Fundus reflectance-functionality
DIAGNOSTIC_TEST	OCT- 1 micra	Fine tomography fundus retina
PROCEDURE	Genotype analysis	Molecular target retina dystrophy analysis

Timeline

• Start date: 2009-08-01
• Primary completion: 2019-06-13
• Completion: 2025-09-30
• First posted: 2019-06-19
• Last updated: 2019-06-19

Locations

1 site across 1 country: Mexico