Implementation of a Next-generation Sequencing Analysis of a Panel of Genes Implicated in Incomplete Forms of Albinism
Status: Completed
Location: See location...
Intervention Type: Biological
Study Type: Observational
SUMMARY
Implementation of a next-generation sequencing panel of genes to identify deleterious variants in patients with incomplete forms of albinism.
Eligibility
Participation Requirements
Sex: All
Healthy Volunteers: f
View:
• Minor and adult patient.
• Patient presenting a clinical diagnosis of incomplete form of albinism with presence of at least 2 signs of ocular albinism among which nystagmus, low vision, foveal hypoplasia, retinal hypopigmentation, translucent irides, misrouting of the optic nerves at the chiasm.
• Registered for the social security system.
• Informed consent signed by patient or parent of a minor patient.
Locations
Other Locations
France
Centre Hospitalier Universitaire de Bordeaux
Bordeaux
Time Frame
Start Date: 2020-11-23
Completion Date: 2024-02-28
Participants
Target number of participants: 53
Treatments
Patient with a diagnosis of incomplete form of albinism
Related Therapeutic Areas
Sponsors
Leads: University Hospital, Bordeaux