Determination of Genetic Susceptibility in Severe Recurrences of Ocular Toxoplasmosis

University Hospital, Strasbourg, France16 enrolled

Overview

Ocular toxoplasmosis (OT) is a major cause of visual impairment worldwide. OT is responsible for 30 to 50% of posterior uveitis. It is characterized by dormant infections that may reactivate without known reasons, causing severe irreversible visual loss. The overall recurrence rate of OT in Europe is greater than 80% for patients and may range from one episode to 11 episodes (1% of OT) in the most extreme cases. Current treatments do not reduce the risk of recurrences and the risk of toxoplasmosis recurrence cannot be predicted in these immunocompetent patients. These clinical and biological expression changes might be related to an individual genetic susceptibility of each patient. The advanced analysis of the entire genome now possible to consider the project.

Study Type

INTERVENTIONAL

Allocation

Purpose

BASIC_SCIENCE

Masking

NONE

Enrollment

Conditions

Toxoplasmosis Infection Genotype II Ocular Toxoplasmosis With Recurrences

Eligibility

Sex: ALLMin age: 12 Years

Medical Language ↔ Plain English

Inclusion Criteria: * seropositive for Toxoplasma gondii (for patient and parents) * Infection with genotype II (for patient and parents) * ocular toxoplasmosis recurrences \>5 (patients only) Exclusion Criteria: * Parents seronegative for T. gondii infection * Infection with others genotypes than type II

Outcomes

Primary Outcomes

Highlighting of genetic mutations associated with the susceptibility to Toxoplasma gondii.severe eye recurrences. Mutation analysis will be done by exome sequencing of the subjects included in this study

Time frame: This analysis will be performed on a blood sample taken in patients included in the inclusion visit