To do the differential expression of long noncoding RNAs (lncRNAs) in pterygium was screened by gene chip technology, and the differentially expressed lncRNAs HOTTIP and RP1-261G23.7 were studied to explore their possible mechanisms in the pathogenesis of pterygium. Collected 40 specimens from June 2016 to May 2017 that underwent surgery in the Ophthalmology Department of Yanjishan Hospital of Wannan Medical College, including 20 pterygium tissue specimens (6 males and 14 females, aged 47-84 years, mean age 68.1 years), 20 cases of normal nasal bulbar conjunctival tissue in patients with strabismus (9 males and 11 females, aged 41-88 years, mean age 61.6 years). Four samples from each group were randomly selected to detect lncRNA expression by high-throughput gene chip detection technology; lncRNA HOTTIP, RP1-261G23.7 and corresponding target genes HOXA13, VEGFA were screened by quantitative real time polymerase chain reaction (qRT-PCR) to verify whether there is a significant difference between the two groups, and to analyze the correlation between the expression of the target genes HOXA13 and VEGFA. (1) SPSS17.0 software was used for data processing in the experimental group and the control group. Gender and age were analyzed by the chi-square test. The statistical results were all P > 0.05, and there was no significant difference in statistics, (2) A total of 8271 differential lncRNAs were detected by high-throughput gene chip detection and compared with normal nasal bulbar conjunctival tissue in patients with strabismus. Among them, lncRNAs with a P-value < 0.05 and log fold change > 2 and Benjamini-Hochberg FDR correction (FDR < 0.05) had 612 upregulated genes and 743 downregulated genes. (3) The two highly differential lncRNAs were selected and verified by qRT-PCR. The results showed that lncRNAs HOTTIP and RP1-261 G23.7 and the corresponding target genes HOXA13 and VEGFA were highly consistent and highly expressed in the control group. (1) LncRNAs are differentially expressed in pterygium; (2) Key lncRNA HOTTIP, RP1-261G23.7 may be new gene targets for pterygium.

To assess pterygium recurrence rates across various surgical techniques utilizing topical 0.05% cyclosporine A (CsA) as an adjuvant therapy versus surgical techniques alone in a meta-analysis. We searched PubMed, Cochrane Database, Embase, and Web of Science for trials that compared pterygium recurrence rates between excision surgery with adjuvant 0.05% CsA and excision surgery alone. Risk of bias was assessed using ROBINS-I and RoB-2 tools. The protocol was prospectively registered in the International Prospective of Systematic Reviews (PROSPERO) under protocol number CRD42025644690. Statistical analysis was performed using Review Manager 5.4.1. We included 12 studies (893 eyes) with follow-up periods of 6 and 12 months. A total of 448 eyes (50.22%) with pterygium were treated with adjuvant 0.05% CsA. Most patients were over 50 years of age, with the majority being male. The pterygium recurrence rate at last follow-up (OR = 0.32; 95% CI [0.22, 0.47]; P < .00001) was lower in eyes treated with excision surgery and adjuvant 0.05% CsA compared to excision surgery alone. Subgroup analyses demonstrated statistically significant reductions in pterygium recurrence rate for randomized clinical trials (RCTs) (OR = 0.33; 95% CI [0.21, 0.52]; P < .00001), bare sclera (OR = 0.20; 95% CI [0.12, 0.36]; P < .00001), and conjunctival flap rotation (CFR) (OR = 0.43; 95% CI [0.20, 0.91]; P = .03). Similarly, statistically significant effects were observed for different posology regimens of 0.05% CsA: once daily (OR = 0.16; 95% CI [0.05, 0.46]; P = .0007), twice daily (OR = 0.36; 95% CI [0.15, 0.83]; P = .02), and more than twice daily (OR = 0.35; 95% CI [0.19, 0.65]; P = .0008). The recurrence rates with rotational conjunctival autograft (RCAG) and limbal conjunctival autograft (LCAG) techniques did not reach statistical significance (P = .12). Adjuvant topical 0.05% CsA appears effective in reducing pterygium recurrence rates following bare sclera and CFR surgical techniques, but not after RCAG or LCAG excision. Additional research is needed to clarify the most effective dosing strategy.

Warburg-Cinotti syndrome is a rare syndrome caused by de novo or inherited variants in discoding domain receptor tyrosine kinase 2 (DDR2). Only six cases have been reported worldwide and our knowledge of this disease remained sparse especially from an ophthalmological perspective, since previous literature mostly focused on systemic malformations or genetics. A seven-year-old boy developed a gelatinous vascularized conjunctiva-like mass secondary to trauma. The mass enlarged and gradually invaded the cornea. With each surgical intervention, the mass recurred and grew even larger rapidly. The patient ended up with the mass covering the entire cornea along with symblepharon formation. Whole exome sequencing revealed a hemizygous variant in the DDR2 gene, which is consistent with Warburg-Cinotti syndrome. Considering Warburg-Cinotti syndrome, we should be vigilant of patients exhibiting progressive conjunctival invasion of the cornea, even those without systemic manifestations or a positive family history.

The MYH3-associated myosinopathies comprise a spectrum of rare neuromuscular disorders mainly characterized by distal arthrogryposis with or without other features like pterygia and vertebrae fusion. CPSKF1B (contractures, pterygia, and spondylocarpotarsal fusion syndrome1B) is the only known autosomal recessiveMYH3-associated myosinopathy so far, with no more than two dozen cases being reported. A boy with CPSKF1B was recruited and subjected to a comprehensive clinical and imaging evaluation. Genetic detection with whole-exome sequencing (WES) was performed on the patient and extended family members to identify the causative variation. A series of in silico and in vitro investigations were carried out to verify the pathogenicity of the two variants of the identified compound heterozygous variation. The patient exhibited moderate CPSKF1B symptoms including multiarticular contractures, webbed neck, and spondylocarpotarsal fusion. WES detected a compound heterozygous MYH3 variation consisting of two variants, namely NM_002470.4: c.3377A>G; p. (E1126G) and NM_002470.4: c.5161-2A>C. It was indicated that the NM_002470.4: c.3377A>G; p. (E1126G) variant mainly impaired the local hydrogen bond formation and impacted the TGF-B pathway, while the NM_002470.4: c.5161-2A>C variant could affect the normal splicing of pre-mRNA, resulting in the appearance of multiple abnormal transcripts. The findings of this study expanded the mutation spectrum of CPSKF1B, provided an important basis for the counseling of the affected family, and also laid a foundation for the functional study of MYH3 mutations.

Pterygium is a multifactorial disease in which UV-B is speculated to play a key role by inducing oxidative stress and phototoxic DNA damage. In search for candidate molecules that are useful for justifying the intense epithelial proliferation observed in pterygium, our attention has been focused on Insulin-like Growth Factor 2 (IGF-2), mainly detected in embryonic and fetal somatic tissues, which regulate metabolic and mitogenic functions. The binding between IGF-2 and its receptor Insulin-like Growth Factor 1 Receptor (IGF-1R) activates the PI3K-AKT pathway, which leads to the regulation of cell growth, differentiation, and the expression of specific genes. Since IGF2 is regulated by parental imprinting, in different human tumors, the IGF2 Loss of Imprinting (LOI) results in IGF-2- and IGF2-derived intronic miR-483 overexpression. Based on these activities, the purpose of this study was to investigate the overexpression of IGF-2, IGF-1R, and miR-483. Using an immunohistochemical approach, we demonstrated an intense colocalized epithelial overexpression of IGF-2 and IGF-1R in most pterygium samples (Fisher's exact test, p = 0.021). RT-qPCR gene expression analysis confirmed IGF2 upregulation and demonstrated miR-483 expression in pterygium compared to normal conjunctiva (253.2-fold and 12.47-fold, respectively). Therefore, IGF-2/IGF-1R co-expression could suggest their interplay through the two different paracrine/autocrine IGF-2 routes for signaling transfer, which would activate the PI3K/AKT signaling pathway. In this scenario, miR-483 gene family transcription might synergically reinforce IGF-2 oncogenic function through its boosting pro-proliferative and antiapoptotic activity.