Clinical Trial: Genetic Decryption of Leber Congenital Amaurosis (LCA) in a Large Cohort of Independent Families.

Study Status: Completed
Recruit Status: Completed
Study Type: Observational



Official Title: Genetic Decryption of Leber Congenital Amaurosis (LCA) in a Large Cohort of Independent Families: Establishment of Genotype-phenotype Correlations and Updating the Clinical Definition of This

Brief Summary:

The main objectives of this study are:

  1. Improve genetic counseling by establishment of prevalences of each of genetic subtypes within a expanded population of patients with LCA taking into account ethnicity of families.
  2. Confirm, refine or modify the genotype-phenotype correlations.

  3. Edit important recommendations for:

    • The clinical and paraclinical exploration of a new patient based on genotype, especially for extraocular explorations, to book at certain genetic subtypes
    • Prenatal care of a couple.
    • Directing families to a therapeutic protocol in progress or in development.
  4. Individualize a panel of families without a mutation in the known genes and identify new genes responsible.