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

MejoraVisionMD

Status: Enrolling

Conditions: Cone Dystrophy; Retina; Dystrophy; Usher Syndromes; Retinitis Pigmentosa

Treatments: Procedure: Genotype analysis; Diagnostic Test: Retina Analysis-mosaic; Diagnostic Test: Autofluorescence; Diagnostic Test: OCT- 1 micra

Study type: Observational

Funder types: Other; NETWORK

Identifiers

NCT03990727

RETMxMap

Details and patient eligibility

About

Patients with retina dystrophies (retinitis pigmentosa, cone>rods dystrophies, Usher and syndromic) will be correlated with genotype and validate inheritance mode by segregation analysis.

Full 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.

Enrollment: 17,000 estimated patients

Sex: All

Ages: 2 weeks to 90 years old

Volunteers: Accepts Healthy Volunteers

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.

Trial design

17,000 participants in 4 patient groups

Retinitis pigmentosa

Description:

Any type of retina dystrophy with pigment / retinitis pigmentosa

Treatment:

Diagnostic Test: OCT- 1 micra

Diagnostic Test: Retina Analysis-mosaic

Procedure: Genotype analysis

Diagnostic Test: Autofluorescence

Usher Syndrome

Description:

Retina dystrophy or retinitis pigmentosa associated with audition problems

Treatment:

Diagnostic Test: OCT- 1 micra

Diagnostic Test: Retina Analysis-mosaic

Procedure: Genotype analysis

Diagnostic Test: Autofluorescence

Cone>rod syndromes

Description:

Retina dystrophy diagnosed or started in central vision.

Treatment:

Diagnostic Test: OCT- 1 micra

Diagnostic Test: Retina Analysis-mosaic

Procedure: Genotype analysis

Diagnostic Test: Autofluorescence

Retinitis pigmentosa sx

Description:

Retinitis pigmentosa with any type of other features

Treatment:

Diagnostic Test: OCT- 1 micra

Diagnostic Test: Retina Analysis-mosaic

Procedure: Genotype analysis

Diagnostic Test: Autofluorescence