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

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

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.

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