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)
Study Type
OBSERVATIONAL
Enrollment
87
University Hospital Tuebingen
Tübingen, Baden-Wurttemberg, Germany
Best Corrected Visual Acuity (BCVA)
best corrected visual acuity
Time frame: September 2007 - January 2022
Visual Field (VF)
visual field as measured by semi-automated 90° kinetic visual field exam using target III4e
Time frame: September 2007 - January 2022
Fundus Photography (FP)
characterization of the retina with fundus photography
Time frame: September 2007 - January 2022
Optos
characterization of the retina with ultra-wide-field scanning laser ophthalmoscopy
Time frame: September 2007 - January 2022
Autofluorescence (AF)
characterization of the retina with fundus autofluorescence
Time frame: September 2007 - January 2022
Optical Coherence Tomography (OCT)
characterization of the retina with optical coherence tomography, e.g. foveal ellipsoid zone loss
Time frame: September 2007 - January 2022
Full-Field Electroretinogram (ff-ERG)
characterization of retinal function with full-field electroretinogram
Time frame: September 2007 - January 2022
This platform is for informational purposes only and does not constitute medical advice. Always consult a qualified healthcare professional.