Purpose: To assess the etiology, clinical features, and outcome of choroidal neovascularization (CNV) in children.
Methods: We retrospectively assessed 10 eyes of 8 patients younger than 18 years diagnosed with CNV. The main clinical parameters included predisposing ocular pathologies, best-corrected visual acuity before and after treatment, characteristics of CNV, and treatment modalities.
Results: Two boys and 6 girls with CNV and a mean age of 13.9 years (SD 1.9, range 11-16 years) were included. Two patients developed bilateral CNV within the follow-up time. The development of CNV was secondary to the following pathologies: choroidal osteoma (n = 3), pathologic myopia (n = 1), punctate inner choroidopathy (n = 1), hereditary macular dystrophy (n = 2), and angioid streaks (n = 1). Idiopathic CNV was diagnosed in 2 children without any obvious associated ocular pathology. In 9 eyes, CNV was treated by intravitreal anti-vascular endothelial growth factor (VEGF) administration (n = 6), photodynamic therapy (n = 1), or combination therapy (n = 3). One eye remained untreated because of advanced disease.
Conclusions: Pediatric CNV is a rare but sight-threatening retinal disease. So far, no standard treatment has been validated. Since the establishment of intravitreal anti-VEGF therapy, laser coagulation and photodynamic therapy have lost their significance as therapy for CNV.
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http://dx.doi.org/10.5301/ejo.5000820 | DOI Listing |
Int J Genomics
January 2025
Department of Medicine, Xinyang Vocational and Technical College, Xinyang, Henan, China.
Recently, exportin gene family members have been demonstrated to play essential roles in tumor progression. However, research on the clinical significance of exportin gene family members is limited in clear cell renal cell carcinoma (ccRCC). Pan-cancer data, ccRCC multiomics data, and single-cell sequence were included to analyze the differences in DNA methylation modification, single nucleotide variations (SNVs), copy number variations (CNVs), and expression levels of exportin gene family members.
View Article and Find Full Text PDFBMC Genomics
January 2025
Department of Obstetrics and Gynecology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Jiefang Avenue 1095, Wuhan, Hubei, 430030, China.
Background: Left-right (LR) asymmetry disorders present a complex etiology, with genetic factors emerging as a primary contributor. This study aims to explore the genetic underpinnings of chromosomal variants and individual genes in fetuses afflicted with prenatal LR asymmetry disorder.
Methods: Through a retrospective analysis conducted between 2020 and 2023 at Tongji Hospital, Huazhong University of Science and Technology, genetic outcomes of LR asymmetric disorder were scrutinized utilizing copy number variation sequencing (CNV-seq) and whole exome sequencing (WES) methodologies.
Sci Rep
January 2025
School of Computer Science and Technology, Liaocheng University, Liaocheng, 252000, Shandong, P.R. China.
Copy number variation (CNV) is an important part of human genetic variations, which is associated with various kinds of diseases. To tackle the limitations of traditional CNV detection methods, such as restricted detection types, high error rates, and challenges in precisely identifying the location of variant breakpoints, a new method called MSCNV (copy number variations detection method for multi-strategies integration based on a one-class support vector machine model) is proposed. MSCNV establishes a multi-signal channel that integrates three strategies: read depth, split read, and read pair.
View Article and Find Full Text PDFAnim Biotechnol
December 2025
Jilin Academy of Agricultural Sciences, Changchun, Jilin Province, China.
Copy number variations (CNV) are important genetic variations. The endogenous factors cobalamin receptor () and MIA SH3 domain ER-derived factor 3 () are associated with bone/muscle development and intramuscular fat deposition. There have been no reports on the effects of and CNVs on growth traits of Chinese cattle.
View Article and Find Full Text PDFFront Genet
January 2025
Department of Laboratory, The Second People's Hospital of Yibin City, Yibin, Sichuan, China.
Objective: This study aims to assess the diagnostic efficacy of a combined approach integrating chromosomal karyotyping, copy number variation sequencing (CNV-seq), and quantitative fluorescence polymerase chain reaction (QF-PCR) in detecting chromosomal abnormalities in high-risk pregnancies.
Methods: This retrospective study analyzed 617 high-risk pregnancies undergoing prenatal diagnosis from February 2023 to August 2024, with amniotic fluid samples concurrently analyzed using karyotyping, CNV-seq, and QF-PCR. We evaluated clinical characteristics, diagnostic yields, and inter-method concordance rates.
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