Retrospective Natural History Study of Retinitis Pigmentosa

Natural History Study of Retinitis Pigmentosa in Patient Carrying Pathogenic Mutations in RHO, PDE6A or PDE6B.

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 a retrospective, longitudinal, observational case history study to determine the natural history of rods and cones degeneration in patients diagnosed with RP caused by pathogenic mutations in genes with selective expression in rods: rhodopsin (RHO), phosphodiesterase 6A (PDE6A) or phosphodiesterase 6B (PDE6B).

113 participants will be enrolled in this study at the single center: CHNO-CIC Quinze-Vingt Paris in France.

Inclusion Criteria:

• Patients with RP caused by pathogenic mutations in RHO, PDE6A or PDE6B genes.

Exclusion Criteria:

• Patients with a pathogenic mutation in any other gene known to be involved in RP.
• Patients with any ocular disorder other than RP, likely to impact the retinal function.