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

Plain-language summary

This study examines the genetic causes of disease in patients with Leber congenital amaurosis or early-onset severe retinal dystrophy, using various eye examinations and genetic tests. Patients with the clinical features of Leber amaurosis or with early severe retinal dystrophy were able to take part. Sponsored by Nantes University Hospital, this observational study had no assigned phase and has been completed.

The summary above is a plain-language rendering of the official record. The original English title is shown for reference.

Trial details

Phase

Not Applicable

Status

Completed

Sponsor

Nantes University Hospital

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 imaging, retinal autofluorescence, genotyping

Start date

4/1/2007

Countries

France

Related genes

Locations

• Nantes, France

Eligibility criteria

Criteria are reproduced from the ClinicalTrials.gov record in the original English. Only the trial team can determine eligibility.

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