ABSTRACT
AIMS: The aim of this study was to identify potential candidates and explore the possible mechanism in congenital cataract induced by tudor domain-containing 7 (TDRD7) deficiency. METHODS: The gene expression profile GSE25812 generated from 18 samples was downloaded from the Gene Expression Omnibus database. Differentially expressed genes (DEGs) between disease and normal groups were identified. Then, gene ontology and pathway enrichment analysis of DEGs were performed. The protein-protein interaction (PPI) network and transcription factor (TF) regulatory network were constructed. The modules in the PPI network were identified. Significant target genes were selected from the TF regulatory network. RESULTS: A total of 329 DEGs were obtained, and downregulated DEGs were significantly enriched in biological processes including defense response and immune response. In the PPI network, high-degree genes of complement component 1, q subcomponent, A/B/C chain (C1QA/C1QB/C1QC), lymphocyte antigen 86 (LY86) and neuroblastoma RAS viral oncogene homolog (NRAS) were identified. From the TF regulatory network, the heat shock 27 kDa protein 1 (HSPB1) was the target of the estrogen receptor 1, and LY86 was the target of the v-myc avian myelocytomatosis viral oncogene homolog. CONCLUSION: HSPB1, NRAS, immune response, defense response and the related genes LY86, C1QA/C1QB/C1QC may play an important role in the development of congenital cataract induced by TDRD7 deficiency. However, further experiments are still needed.
Subject(s)
Cataract/congenital , Cataract/genetics , Ribonucleoproteins/deficiency , Animals , Cataract/metabolism , Computational Biology , Eye Proteins/genetics , Eye Proteins/metabolism , Gene Expression Profiling , Gene Knockdown Techniques , Gene Regulatory Networks , Mice , Microarray Analysis , Ribonucleoproteins/genetics , Signal Transduction/physiology , Transcription Factors/metabolismABSTRACT
AIM: To determine the clinical outcomes of laser in situ keratomileusis (LASIK) treatments using LaserSight AstraPro Planner 2.2 Z software for myopia with asymmetric corneal shape. METHODS: Four hundred and eighty-five eyes [243 patients; spherical equivalent (SE), -5.93±1.88 diopters (D)] were treated with asymmetric ablations using LaserSight SLX laser (version 5.3, 300Hz) were retrospectively analyzed and LaserSight AstraPro Planner 2.2 Z software. Preoperative and postoperative uncorrected visual acuities (UCVA), spherical equivalent (SE) refraction, pachymetry, and corneal asphericity (Q value) and decentration were evaluated. RESULTS: At 12mo postoperatively, the decimal UCVA was 1.0 or better in 449 (92.6%) eyes. Two eyes (0.4%) lost 1 line of the decimal best spectacle-corrected visual acuity (BCVA), 316 (65.2%) did not change, 149 (30.7%) gained 1 line, and 18 (3.7%) gained 2 lines or more after surgery. Three hundred and thirty-two eyes (68.5%) were within 0.5 D in SE. The mean tissue saving ablation depth was 4.28±2.86 (0-16) µm (median, 4 µm). The mean attempted remaining central corneal thickness was 435.79±29.56 µm, the mean postoperative pachymetry was 444.94±28.93 µm. The mean preoperative Q value was -0.19±0.18, the postoperative was 0.30±0.48 (P=0.000). The mean postoperative decentration was 0.39±0.19 mm. CONCLUSION: Topography-guided LASIK with AstraPro Planner 2.2 Z custom ablation planning software in an asymmetric ablation mode was an effective, safe, predictable, and stable refractive procedure for the myopia with asymmetric corneal topography.
