Clinical/demographic, functional testing and multimodal imaging differences between genetically solved and unsolved retinitis pigmentosa

INTRODUCTION The purpose of this study was to compare clinical/demographic, functional testing and multimodal imaging features between genetically solved and genetically unsolved non-syndromic retinitis pigmentosa (nsRP) patients. METHODS Cross sectional study conducted at an inherited retinal dystrophies reference center. Consecutive patients with nsRP and available genetic testing results performed between 2018 and 2020 were included. Genetic testing was clinically-oriented and variants were classified according to the Am erican College of Medical Genetics and Genomics. Only class IV or V variants were considered disease-causing. Clinical/demographic, functional and imaging features were compared between genetically unsolved (G1) and genetically solved (G2) patients. RESULTS A total of 175 patients (146 families) we re included: 68 patients (59 families) in G1 and 107 patients (87 families) in G2. First symptoms
Source: Ophthalmologica - Category: Opthalmology Source Type: research