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.
Study Type
OBSERVATIONAL
Enrollment
113
CHNO XV-XX Paris - CIC 1423
Paris, France
Visual acuity
Progression of disease over time as measured by best corrected visual acuity (BCVA) (ETDRS, Snellen) and refraction
Time frame: 2 years
Visual field
Progression of disease over time as measured by visual fields (kinetic and static)
Time frame: 2 years
Spectral Domain Optical Coherence tomography (SD-OCT)
Progression of disease over time as measured by SD-OCT (EZ length, ELM length, ONL thickness, macular volume).
Time frame: 2 years
Fundus Autofluorescence (FAF)
Progression of disease as measured by FAF (Hyperautofluorescent ring)
Time frame: 2 years
Patients characteristics
Age, gender, medical and surgical history, family history and concomitant treatments
Time frame: 2 years
Clinical diagnosis
Age and description at onset, clinical signs, relevant treatments and an ophthalmological anamnesis
Time frame: baseline (At diagnosis)
Genetic diagnosis
Mutated gene, identified pathogenic mutation
Time frame: baseline (At diagnosis)
Electroretinogram (ERG)
Photopic and scotopic full field
Time frame: baseline (At diagnosis)
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Color vision
15 Hue Desaturated Lanthony
Time frame: 2 years