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

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.

Conditions

• Amaurosis
• Retinal Diseases

Interventions

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

Sponsors & Collaborators

• Nantes University Hospital

  lead OTHER

Principal Investigators

• Michel Weber, MD · Nantes University Hospital

• Sabine Defoort, MD · CHU de Lille

• Bernard Puech, MD · CHU de Lille

• Isabelle Drumaré, MD · CHU de Lille

• Christian Hamel, MD · CHU de Montpellier

• Carl Arndt, MD · CHU de Montpellier

• Olivier Roche, MD · Hôpital Necker

• Christophe Orssaud, MD · Hôpital Necker

• Emmanuel Bui Quoc, MD · Hôpital Necker

• Saddek Mohand Saïd, MD · CNO XV-XX

• José-Alain Sael, MD · CNO XV-XX

• Hélène Dollfus-Waltmann, MD · CHU de Strasbourg

Study Design

Allocation

NON_RANDOMIZED

Purpose

DIAGNOSTIC

Masking

NONE

Model

SINGLE_GROUP

Eligibility

Sex

ALL

Healthy Volunteers

No

Timeline & Regulatory

Start

2007-04-30

Countries

• France

Study Locations