Genetic Study of Patients Suffering From Congenital Amaurosis of Leber or From an Early Severe Retinal Dystrophy

Study Overview
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Brief Summary
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Retinal dystrophies are responsible for numerous cases of blindness, and there are no therapeutic possibilities today. Gene therapy is efficient in a dog model concerning dystrophy linked to a mutation of the rpe65 gene. If such a therapy is to be considered for humans, it is urgent to select, at a national level, patients suffering from dystrophy linked to a mutation of the rpe65 gene. The systematic correlation of phenotype/genotype is an anatomical-functional approach, but it also identifies patients who may be potentially included in a future gene therapy study. Indeed, identification of people with a mutation of rpe65 is still insufficient in France (compared to other European countries) because of a lack of systemic genotyping of retinal dystrophy.

Official Title
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Genetical, Multi-center, Prospective Study of Phenotyping and Genotyping of Patients Suffering From Congenital Amaurosis of Leber or From an Early Severe Retinal Dystrophy in the Aim of the Realisation of a Clinical Trial of Gene Therapy

Conditions
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Amaurosis, Retinal Diseases

Intervention / Treatment
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* Procedure: realization of a family tree
* Procedure: refractometry
* Procedure: evaluation of the presence of a nystagmus
* Procedure: ocular behavior
* Procedure: test of baby vision
* Procedure: test of keenness
* Procedure: reading test
* Procedure: visual field
* Procedure: color vision
* Procedure: electroretinographical activity
* Procedure: biomicroscopical test
* Procedure: retinal imaging
* Procedure: retinal autofluorescence
* Procedure: genotyping


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Patients with clinical characteristics of amaurosis of Leber Patients suffering from an early severe retinal dystrophy Patients with social insurance Patients with a consent form signed Exclusion Criteria: Retinal dystrophy with autosomal dominant transmission Retinal dystrophy occuring after 5 years of age Syndromical retinal dystrophy with one or more systemic manifestations Familial macular degeneration Familial choroid dystrophy Non-degenerative retinopathology
Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Design Details

Primary Purpose: Diagnostic
Allocation: Non-Randomized
Intervention Model: Single Group Assignment
Masking: None (Open Label)


Arms and Interventions

| Intervention/Treatment |
| --- |
|Procedure: realization of a family tree|nan|
|Procedure: refractometry|nan|
|Procedure: evaluation of the presence of a nystagmus|nan|
|Procedure: ocular behavior|nan|
|Procedure: test of baby vision|nan|
|Procedure: test of keenness|nan|
|Procedure: reading test|nan|
|Procedure: visual field|nan|
|Procedure: color vision|nan|
|Procedure: electroretinographical activity|nan|
|Procedure: biomicroscopical test|nan|
|Procedure: retinal imaging|nan|
|Procedure: retinal autofluorescence|nan|
|Procedure: genotyping|nan|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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early severe retinal dystrophy, amaurosis of leber