ABSTRACT
Purpose@#To compare the long-term clinical outcomes of patients with refractive accommodative esotropia (RAET) and infantile esotropia (IET). @*Methods@#The medical records of patients with RAET and IET who were followed-up for more than 36 months were retrospectively analyzed. The RAET patients were prescribed spectacles to correct cycloplegic refraction and those with IET underwent bilateral, medial rectus recession. Visual acuity, refraction, the angle of esodeviation at far and near distances, and near-stereopsis were measured at each visit. The IET patients were divided into two groups by the time of surgery (before and after 24 months of age). Patients in both groups who underwent reoperations after diagnosis of partially accommodative esotropia (PAET) and recurrent IET during follow-up were analyzed. @*Results@#Sixty-nine patients (40 with RAET and 29 with IET) were included. The follow-up period was 69.48 ± 28.41 months. At the final visit, the angles of esodeviation were 2.82 ± 5.46 prism diopters (PD) in the RAET group and 9.28 ± 8.37 PD in the IET group (p < 0.01). In IET patients who underwent surgery before and after 24 months of age, the angles of esodeviation were 4.62 ± 5.25 and 13.06 ± 8.63 PD and the median near-stereopsis values 60 and 140 arcsec at the final visit (p < 0.01, 0.03). Seven patients (17.5%) in the RAET group, and 2 (15.4%) and 10 (62.5%) IET patients who underwent surgery before and after 24 months of age, required reoperations (p < 0.01). @*Conclusions@#RAET and IET patients who underwent surgery before 24 months of age exhibited better alignment and stereopsis at the final visit than those who underwent later surgery and the reoperation rate was lower.
ABSTRACT
Purpose@#Targeted next-generation sequencing (NGS) panels for solid tumors have been useful in clinical framework for accurate tumor diagnosis and identifying essential molecular aberrations. However, most cancer panels have been designed to address a wide spectrum of pan-cancer models, lacking integral prognostic markers that are highly specific to gliomas. @*Materials and Methods@#To address such challenges, we have developed a glioma-specific NGS panel, termed “GliomaSCAN,” that is capable of capturing single nucleotide variations and insertion/deletion, copy number variation, and selected promoter mutations and structural variations that cover a subset of intron regions in 232 essential glioma-associated genes. We confirmed clinical concordance rate using pairwise comparison of the identified variants from whole exome sequencing (WES), immunohistochemical analysis, and fluorescence in situ hybridization. @*Results@#Our panel demonstrated high sensitivity in detecting potential genomic variants that were present in the standard materials. To ensure the accuracy of our targeted sequencing panel, we compared our targeted panel to WES. The comparison results demonstrated a high correlation. Furthermore, we evaluated clinical utility of our panel in 46 glioma patients to assess the detection capacity of potential actionable mutations. Thirty-two patients harbored at least one recurrent somatic mutation in clinically actionable gene. @*Conclusion@#We have established a glioma-specific cancer panel. GliomaSCAN highly excelled in capturing somatic variations in terms of both sensitivity and specificity and provided potential clinical implication in facilitating genome-based clinical trials. Our results could provide conceptual advance towards improving the response of genomically guided molecularly targeted therapy in glioma patients.