Clinical and Genetic Findings in Patients With PRPF31-associated Retinitis Pigmentosa
Completed
- Conditions
- Retinitis Pigmentosa
- Registration Number
- NCT06368375
- Lead Sponsor
- University Hospital Tuebingen
- Brief Summary
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)
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- COMPLETED
- Sex
- All
- Target Recruitment
- 87
Inclusion Criteria
- genetically confirmed PRPF31-associated inherited retinal dystrophy or asymptomatic carrier of the respective variant(s)
Exclusion Criteria
- none
Study & Design
- Study Type
- OBSERVATIONAL
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method Fundus Photography (FP) September 2007 - January 2022 characterization of the retina with fundus photography
Optos September 2007 - January 2022 characterization of the retina with ultra-wide-field scanning laser ophthalmoscopy
Best Corrected Visual Acuity (BCVA) September 2007 - January 2022 best corrected visual acuity
Autofluorescence (AF) September 2007 - January 2022 characterization of the retina with fundus autofluorescence
Optical Coherence Tomography (OCT) September 2007 - January 2022 characterization of the retina with optical coherence tomography, e.g. foveal ellipsoid zone loss
Full-Field Electroretinogram (ff-ERG) September 2007 - January 2022 characterization of retinal function with full-field electroretinogram
Visual Field (VF) September 2007 - January 2022 visual field as measured by semi-automated 90° kinetic visual field exam using target III4e
- Secondary Outcome Measures
Name Time Method
Trial Locations
- Locations (1)
University Hospital Tuebingen
🇩🇪Tuebingen, Baden-Wuerttemberg, Germany