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Retrospective chart review study to elucidate the genotype and phenotype of patients with PRPF31-associated retinitis pigmentosa and asymptomatic carriers of the respective variant(s)
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| Measure | Description | Time Frame |
|---|---|---|
| Best Corrected Visual Acuity (BCVA) | best corrected visual acuity | September 2007 - January 2022 |
| Visual Field (VF) | visual field as measured by semi-automated 90° kinetic visual field exam using target III4e | September 2007 - January 2022 |
| Fundus Photography (FP) | characterization of the retina with fundus photography | September 2007 - January 2022 |
| Optos | characterization of the retina with ultra-wide-field scanning laser ophthalmoscopy | September 2007 - January 2022 |
| Autofluorescence (AF) | characterization of the retina with fundus autofluorescence | September 2007 - January 2022 |
| Optical Coherence Tomography (OCT) | characterization of the retina with optical coherence tomography, e.g. foveal ellipsoid zone loss | September 2007 - January 2022 |
| Full-Field Electroretinogram (ff-ERG) | characterization of retinal function with full-field electroretinogram | September 2007 - January 2022 |
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Inclusion Criteria:
Exclusion Criteria:
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Patients with genetically confirmed PRPF31-associated inherited retinal dystrophy or asymptomatic carrier of the respective variant(s)
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| Name | Affiliation | Role |
|---|---|---|
| Laura Kuehlewein, MD | Department for Ophthalmology, University of Tuebingen | Principal Investigator |
| Susanne Kohl, PhD | Molecular Genetics Laboratory, Department for Ophthalmology, University of Tuebingen | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| University Hospital Tuebingen | Tübingen | Baden-Wurttemberg | 72076 | Germany |
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| ID | Term |
|---|---|
| D012174 | Retinitis Pigmentosa |
| ID | Term |
|---|---|
| D015785 | Eye Diseases, Hereditary |
| D005128 | Eye Diseases |
| D058499 | Retinal Dystrophies |
| D012162 | Retinal Degeneration |
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| D012164 |
| Retinal Diseases |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |