Retinitis Pigmentosa
Conditions
Keywords
retinitis pigmentosa, PRPF31, inherited retinal dystrophy, carrier
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)
Interventions
None listed
Sponsors
University Hospital Tuebingen
Study design
Observational model
COHORT
Time perspective
CROSS_SECTIONAL
Eligibility
Sex/Gender
ALL
Healthy volunteers
No
Inclusion criteria
* genetically confirmed PRPF31-associated inherited retinal dystrophy or asymptomatic carrier of the respective variant(s)
Exclusion criteria
* none
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Best Corrected Visual Acuity (BCVA) | September 2007 - January 2022 | best corrected visual acuity |
| Visual Field (VF) | September 2007 - January 2022 | visual field as measured by semi-automated 90° kinetic visual field exam using target III4e |
| 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 |
| 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 |
Countries
Germany
Outcome results
None listed