Figure 1. Overview of genetic findings in patients with suspected retinitis pigmentosa. A. Flowchart of patient selection and results from NGS. B. Variant classification according to ACMG criteria for the 44 genetically evaluated patients. C. Distribution of inheritance patterns among identified RP-associated genes. ACMG, American College of Medical Genetics and
Genomics; ADRP, autosomal dominant retinitis pigmentosa; ARRP, autosomal recessive retinitis pigmentosa; LB, likely benign;
LP, likely pathogenic; NGS, next-generation sequencing; p, pathogenic; RP, retinitis pigmentosa; VUS, variant of uncertain
significance; XLRP, X-linked retinitis pigmentosa.
