iPS Cells of Patients for Models of Retinal Dystrophies

iPS Cells of Patients for Models of Retinal Dystrophies

The investigators are focused on inherited retinal dystrophies with an aim to further understand disease pathophysiology and to elaborate novel treatments, as, to date, there is no effective treatment to prevent blindness.

The main goal of this study is to generate human cellular models of healthy and disease retinas and perform studies to evaluate the efficiency of gene therapy approaches for different diseases.

Skin biopsies of volunteers are cultured to isolate fibroblasts that are then reprogrammed into iPS cells. Healthy and disease-specific iPS cells are then differentiated into retinal models.

This study should help to elucidate disease pathways and to provide proof-of-concept for various therapeutic approaches.

Inclusion criteria :

• Signed informed consent and

• Choroideremia :

  • Males
  • CHM mutation
  • With multimodal Imaging anomalies in line with CHM

• All other presumed inherited retinal dystrophies with bilateral and symmetrical involvement with identified mutations in one of the Retnet gene

• All presumed inherited optic neuropathy with bilateral and symmetrical involvement with identified mutations

• And in all cases or pattern

  • Age from 5 to 70
  • with appropriate health insurance

Exclusion criteria :

• Patient under tutorship or curatorship