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

Recruiting

• Conditions: Usher Syndromes; Cone Dystrophy; Retina; Dystrophy; Retinitis Pigmentosa
• Interventions: Diagnostic Test: Retina Analysis-mosaic; Diagnostic Test: Autofluorescence; Diagnostic Test: OCT- 1 micra; Procedure: Genotype analysis

• Registration Number: NCT03990727
• Lead Sponsor: MejoraVisionMD

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 Timeline

• Study Start: 2009-08
• Status Verified: 2019-06
• Study First Submitted: 2019-06-11
• Primary Completion: 2019-06-13
• Study First Submitted QC: 2019-06-16
• Last Update Submitted: 2019-06-16
• Study First Posted: 2019-06-19
• Last Update Posted: 2019-06-19
• Study Completion: 2025-09-30

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 17000

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.

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
Retinitis pigmentosa sx	Genotype analysis	Retinitis pigmentosa with any type of other features
Retinitis pigmentosa sx	OCT- 1 micra	Retinitis pigmentosa with any type of other features
Usher Syndrome	Genotype analysis	Retina dystrophy or retinitis pigmentosa associated with audition problems
Retinitis pigmentosa	Retina Analysis-mosaic	Any type of retina dystrophy with pigment / retinitis pigmentosa
Retinitis pigmentosa	OCT- 1 micra	Any type of retina dystrophy with pigment / retinitis pigmentosa
Retinitis pigmentosa sx	Retina Analysis-mosaic	Retinitis pigmentosa with any type of other features
Retinitis pigmentosa	Autofluorescence	Any type of retina dystrophy with pigment / retinitis pigmentosa
Retinitis pigmentosa	Genotype analysis	Any type of retina dystrophy with pigment / retinitis pigmentosa
Cone>rod syndromes	Retina Analysis-mosaic	Retina dystrophy diagnosed or started in central vision.
Usher Syndrome	Retina Analysis-mosaic	Retina dystrophy or retinitis pigmentosa associated with audition problems
Usher Syndrome	Autofluorescence	Retina dystrophy or retinitis pigmentosa associated with audition problems
Usher Syndrome	OCT- 1 micra	Retina dystrophy or retinitis pigmentosa associated with audition problems
Cone>rod syndromes	Autofluorescence	Retina dystrophy diagnosed or started in central vision.
Cone>rod syndromes	OCT- 1 micra	Retina dystrophy diagnosed or started in central vision.
Cone>rod syndromes	Genotype analysis	Retina dystrophy diagnosed or started in central vision.
Retinitis pigmentosa sx	Autofluorescence	Retinitis pigmentosa with any type of other features

Primary Outcome Measures

Name	Time	Method
Gene-molecular variation to correlate with phenotype based on autofluorescence, retina analysis,	8 years	Molecular variation correlates with specific phenotype based on autofluorescence, retina analysis, macular coherence tomography.

Secondary Outcome Measures

Name	Time	Method
Preliminary Natural History	5 years	Ocular exam, retina analysis, autofluorescence and OCTs will be described in time frame

Trial Locations

Locations (1)

Retina and Genomics Institute; 🇲🇽 Merida, Yucatan, Mexico