ObjectiveTo investigate the expression of transcription factor SOX11 in retinoblastoma (RB) and the relation with the genes and cellular pathways.MethodsA public data set gse59983 containing the full mRNA expression profile of cancer tissues in 76 RB patients was downloaded from the GEO Database at the National Center for Biotechnology Information. According to the expression of 15 marker genes, these genes were divided into cell cycle marker genome (group 1, 26 patients), vertebral photoreceptor marker genome (group 2, 4 patients) and rod photoreceptor marker gene (group 3, 46 patients). R2 bioinformatics platform (http://r2.amc.NL) was used to analyze the gse59983 public data set. The SOX11 expression in cancer tissues of patients in 3 groups were observed and the SOX11-related genes were identified. According to the gene correlation, the clustering heat map was drawn, and the related genes and pathways of SOX11 were preliminarily analyzed by Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway analysis tool and Gene Annotation (GO) analysis method.ResultsSOX11 expression in cancer tissues of patients in group 1 was significantly higher than that of groups 2 and 3 (P＜0.001). SOX11 expression in cancer tissues of patients in group 3 was significantly higher than that in group 2 (P＜0.001). A total of 4524 genes significantly related to SOX11 expression were detected. Among them, there were 2139 positively correlated genes and 2385 negatively correlated genes. SOX11 and the 16 genes with the strongest correlation were screened and the clustering heat map was drawn. The clustering form of SOX11 and SOX11 significantly correlated genes was roughly the same as the original form. KEGG and GO analysis showed that SOX11 related genes were involved in regulating mitotic cell cycle, cell apoptosis, photoreceptor cell development, photoreceptor cell protection, etc.ConclusionThe expression of SOX11 in RB is significantly different in different types or periods. Its expression is significantly correlated with genes involved in the regulation of cell cycle.
ObjectiveTo observe the clinical characteristics and optical coherence tomography (OCT) features of pseudopapilledema (PPE) combined with peripapillary hyper-reflective ovoid mass-like structures (PHOMS) in children. MethodsA retrospective observational study. From October 2019 to May 2021, total 22 eyes from 12 children diagnosed as PPE combined with PHOMS in the Neuro-ophthalmology Department of The First Hospital of Xi’an (Affiliated of The First Hospital of Northwest University) were recruited. Among the children, 6 were male and 6 were female. The average age was (10.6±2.7) years. The average course from disease onset to diagnosis of PPE combined with PHOMS was (8.0±7.5) months. All patients underwent best corrected visual acuity (BCVA), relative afferent papillary defect (RAPD), Ishihara's test, fundus photography, OCT, fundus autofluorescence (FAF), ocular B-mode ultrasound, visual field and patternvisual evoked potential (P-VEP). The clinical and OCT characteristics of the patients were observed. ResultsThe anterior segments of the patients were normal. The intraocular pressures and Ishihara's test were all normal. All RAPD were negative. Total 22 eyes, BCVA was 1.0 in 21 eyes and one eye was 0.12. The fundus photography revealed blurred optic discs margin, showing mild to moderate edema-like elevation with more prominent in the nasal parts, presenting as a “C” shape halo. No obvious abnormal fluorescence was observed in FAF. The OCT scan of involvement eyes showed an elevated appearance in vary degrees, and the sharply marginated ovoid hyper-reflective mass-like structures which laterally herniated into the peripapillary region under retinal nerve fiber layer and above the Bruch membrane were detected with consecutive nasal enlargement scanning, corresponding to the nasal parts in the fundus photography. The higher degree of elevation, the larger the volume. Macular retina pigment epithelium layer and ganglion cell thickness were normal. Ocular B-mode ultrasound showed that the head of the optic nerve in the posterior wall of the eyeball (in front of the optic disc) was elevated in all affected eyes, and there was no strong signal echo in it. Visual field examination showed physical blind spot enlargement in 3 eyes and visual field defect in 2 eyes. P-VEP examination showed that the peak was slightly delayed in 3 eyes and the amplitude was slightly reduced in 3 eyes. ConclusionsEnlarged nasal optic disc OCT scan can improve the detection rate of PHOMS. PHOMS were detected bilaterally in the cases with binocular PPE while only in the effected eye in the cases of monocular PPE; the higher degree of PPE, the lager volume of PHOMS. PHOMS were could contribute to the diagnosis of PPE in children.