Prospective Natural History Study of Retinitis Pigmentosa

Natural History Study of Retinitis Pigmentosa Due to RHO, PDE6a or PDE6b Mutations

This is natural history study of rods and cones degenerations in patients with Retinitis Pigmentosa (RP) caused by pathogenic mutations in RHO, PDE6a or PDE6b gene mutations.

This is an open, longitudinal, prospective, multicentric study to describe the disease progression in patients with retinitis pigmentosa due to mutation in genes with selective expression in rods: rhodopsin (RHO), phosphodiesterase 6a (PDE6a) or phosphodiesterase 6b (PDE6b).RHO,PDE6A or PDE6B mutation.

Inclusion Criteria:

• RP with mutations affecting the RHO, PDE6A and PDE6B genes
• Visual acuity ≥ 20/200 for at least one eye at inclusion visit
• Binocular Visual field diameter ≥ 5° as measured on the Goldmann III-4e isopter at inclusion visit
• Patients having signed the informed consent form
• Sufficient knowledge of the local language to ensure understanding of the tasks to be performed and the instructions received
• Patient affiliated to a Health Security System if they are included in a clinical site based in France (per law)

Exclusion Criteria:

• Patients with any other gene mutation known to be involved in RP
• Patients with other ocular disorder likely to impact the retinal function
• Pregnant or breastfeeding women