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

2014-08-27 03:40:40 | BioPortfolio

Summary

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.

Study Design

Allocation: Non-Randomized, Control: Uncontrolled, Intervention Model: Single Group Assignment, Masking: Open Label, Primary Purpose: Diagnostic

Conditions

Amaurosis

Intervention

realization of a family tree, refractometry, evaluation of the presence of a nystagmus, ocular behavior, test of baby vision, test of keenness, reading test, visual field, color vision, electroretinographical activity, biomicroscopical test, retinal imagi

Location

CHU de Nantes
Nantes
France
44093

Status

Recruiting

Source

Nantes University Hospital

Results (where available)

View Results

Links

Published on BioPortfolio: 2014-08-27T03:40:40-0400

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