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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.
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| Measure | Description | Time Frame |
|---|---|---|
| Visual acuity | Progression of disease over time as measured by best corrected visual acuity (BCVA) (ETDRS, Snellen) and refraction | 2 years |
| Visual field | Progression of disease over time as measured by visual fields (kinetic and static) | 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). | 2 years |
| Fundus Autofluorescence (FAF) | Progression of disease as measured by FAF (Hyperautofluorescent ring) | 2 years |
| Measure | Description | Time Frame |
|---|---|---|
| Patients characteristics | Age, gender, medical and surgical history, family history and concomitant treatments | 2 years |
| Clinical diagnosis | Age and description at onset, clinical signs, relevant treatments and an ophthalmological anamnesis |
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Inclusion Criteria:
Exclusion Criteria:
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Subjects with RP caused by pathogenic mutations in RHO, PDE6A or PDE6B gene mutations.
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| CHNO XV-XX Paris - CIC 1423 | Paris | 75012 | France |
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| ID | Term |
|---|---|
| D012174 | Retinitis Pigmentosa |
| D012164 | Retinal Diseases |
| D005128 | Eye Diseases |
| D001766 | Blindness |
| D014786 | Vision Disorders |
| D000071700 | Cone-Rod Dystrophies |
| ID | Term |
|---|---|
| D015785 | Eye Diseases, Hereditary |
| D058499 | Retinal Dystrophies |
| D012162 | Retinal Degeneration |
| D030342 | Genetic Diseases, Inborn |
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| baseline (At diagnosis) |
| Genetic diagnosis | Mutated gene, identified pathogenic mutation | baseline (At diagnosis) |
| Electroretinogram (ERG) | Photopic and scotopic full field | baseline (At diagnosis) |
| Color vision | 15 Hue Desaturated Lanthony | 2 years |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D012678 | Sensation Disorders |
| D009461 | Neurologic Manifestations |
| D009422 | Nervous System Diseases |
| D012816 | Signs and Symptoms |
| D013568 | Pathological Conditions, Signs and Symptoms |