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

Study Overview
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Brief Summary
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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
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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.

Official Title
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Phenotype Correlates Genotype of Inherited Retina Dystrophies

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

Intervention / Treatment
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* Diagnostic Test: Retina Analysis-mosaic
* Diagnostic Test: Autofluorescence
* Diagnostic Test: OCT- 1 micra
* Procedure: Genotype analysis


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Diagnosis of inherited retina dystrophy or retinitis pigmentosa Must be able to perform all study tests. Must be able to visit every year. Exclusion Criteria: 1) Not willing to visit every year.

Ages Eligible for Study
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Minimum Age: 2 Weeks
Maximum Age: 90 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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Accepts Healthy Volunteers

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Retinitis pigmentosa<br>Any type of retina dystrophy with pigment / retinitis pigmentosa | Diagnostic Test: Retina Analysis-mosaic<br>* Fundus retina pattern study<br>Diagnostic Test: Autofluorescence<br>* Fundus reflectance-functionality<br>Diagnostic Test: OCT- 1 micra<br>* Fine tomography fundus retina<br>Procedure: Genotype analysis<br>* Molecular target retina dystrophy analysis<br>|
| Usher Syndrome<br>Retina dystrophy or retinitis pigmentosa associated with audition problems | Diagnostic Test: Retina Analysis-mosaic<br>* Fundus retina pattern study<br>Diagnostic Test: Autofluorescence<br>* Fundus reflectance-functionality<br>Diagnostic Test: OCT- 1 micra<br>* Fine tomography fundus retina<br>Procedure: Genotype analysis<br>* Molecular target retina dystrophy analysis<br>|
| Cone>rod syndromes<br>Retina dystrophy diagnosed or started in central vision. | Diagnostic Test: Retina Analysis-mosaic<br>* Fundus retina pattern study<br>Diagnostic Test: Autofluorescence<br>* Fundus reflectance-functionality<br>Diagnostic Test: OCT- 1 micra<br>* Fine tomography fundus retina<br>Procedure: Genotype analysis<br>* Molecular target retina dystrophy analysis<br>|
| Retinitis pigmentosa sx<br>Retinitis pigmentosa with any type of other features | Diagnostic Test: Retina Analysis-mosaic<br>* Fundus retina pattern study<br>Diagnostic Test: Autofluorescence<br>* Fundus reflectance-functionality<br>Diagnostic Test: OCT- 1 micra<br>* Fine tomography fundus retina<br>Procedure: Genotype analysis<br>* Molecular target retina dystrophy analysis<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Gene-molecular variation to correlate with phenotype based on autofluorescence, retina analysis, | Molecular variation correlates with specific phenotype based on autofluorescence, retina analysis, macular coherence tomography. | 8 years | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Preliminary Natural History | Ocular exam, retina analysis, autofluorescence and OCTs will be described in time frame | 5 years |