Clinical characterization of patients with PRPF31-related retinitis pigmentosa and asymptomatic carriers: a cross-sectional study

Keyphrases

• Clinical Characterization 100%
• Retinitis pigmentosa 100%
• Asymptomatic Carriers 100%
• PRPF31 100%
• Stimulus Thresholds 57%
• Full-field Electroretinography 42%
• Cause of Disease 28%
• Visual Field 28%
• Spearman Correlation Analysis 28%
• Disease Severity 14%
• Function Parameters 14%
• Clinical Examination 14%
• Goldmann Visual Field 14%
• Visual Acuity 14%
• Best-corrected Visual Acuity 14%
• Visual Function 14%
• Correlation Coefficient 14%
• Clinical Phenotype 14%
• Disease Manifestations 14%
• Contrast Sensitivity 14%
• Structural Abnormalities 14%
• Structure Function 14%
• All-or-nothing 14%
• Subclinical Disease 14%
• Threshold Estimation 14%
• Fundoscopy 14%
• Multimodal Imaging 14%
• Deep Phenotyping 14%
• Structural Investigation 14%
• RP11 14%
• Quantitative Outcome Measure 14%
• Threshold Sensitivity 14%
• Slit Lamp 14%
• Functional Metrics 14%
• Non-penetrance 14%
• Retinal Anatomy 14%
• Structural Metrics 14%

Biochemistry, Genetics and Molecular Biology

• Cross Sectional Study 100%
• Retinitis pigmentosa 100%
• PRPF31 100%
• Visual Field 42%
• Penetrance 14%
• Phenotype 14%
• Visual Acuity 14%
• Best Corrected Visual Acuity 14%
• Vision 14%
• Contrast Sensitivity 14%

Neuroscience

• Retinitis pigmentosa 100%
• PRPF31 100%
• Ophthalmoscopy 14%