Next Generation Sequencing (NGS) strategy is a powerful tool to identify genes implicated in very rare diseases for which the previous genetic explorations remain negative to date. The aim of this project is based on groups of patients with original clinical phenotypes including neurosensory impairment without genetic cause identified to date. The investigators will study these families using whole exome sequencing to potentially identify new genes and new underlying biological pathways involved in neurosensory diseases.

Inclusion Criteria:

• Original phenotype with neurosensory diseases
• Written, informed consent obtained

Exclusion Criteria:

• Refusal to participate at the study
• Prior inclusion in a similar study (NGS)

This project focuses on families with unsual phenotypes who have sensorineural disease with retinal degeneration AND/OR deafness. Our first hypothesis is that these clinical entities are associated with new genes not described to date. However, it is impossible to exclude at this stage an allelic variability (mutations in genes already known but with an unusual phenotype) or mutations in genes implicated in neurosensory diseases but not detected by prior exploration. These situations illustrate the problem of genetic complexity and difficulty of the phenotype correlations - genotype.