Search Results (12)

Background/Objectives: To evaluate the efficacy and safety of using the preservative-free topical proxymetacaine hydrochloride (Minims, 0.5% w/v, Bausch & Lomb, UK) to control postoperative pain after epithelium-off corneal crosslinking (CXL) for keratoconus. Methods: This is an observational study of patients with mild to severe keratoconus who have undergone epithelium-off CXL. CXL was completed by applying dextran-free riboflavin (0.1%) for 10 min (Vibex Rapid; Avedro, Inc.), followed by continuous UV-A light (Avedro KXL system; Avedro, Inc.) for 30 min at an intensity of 3 mW/cm² and an energy of 5.4 J/cm². All patients were prescribed postoperative proxymetacaine hydrochloride PRN with an allowed frequency of up to eight times per 24 h for the first 3 days to control postoperative pain. Patients were reviewed at 1–2 weeks postoperatively for a comprehensive examination, including assessment of delayed corneal healing, removal of the bandage contact lens, and recording of subjective symptoms. Results: There were 223 eyes of 180 patients with a mean age of 24.9 ± 8.6 years (range: 13–38 years). Male patients were 72%. At their planned first postoperative visit, we found no corneal healing abnormalities, such as persistent epithelial defects, epithelial irregularities, or early postoperative stromal haze, in any patient. All patients subjectively reported that proxymetacaine drops helped them to control postoperative pain, particularly in the first 48 h. Conclusions: None of the patients reported pain after 3 days of using proxymetacaine drops up to eight times a day for the first 3 days. It appears to be a safe and effective solution to control postoperative pain without any complications. Full article

Background/Objectives: The aim of this study was to evaluate computed tomography (CT) findings in penetrating globe injuries and their relationship with ocular trauma scores (OTSs). Methods: Patients with penetrating globe injuries who had orbital CT images were included in this study. Demographics, injury zone, and ophthalmologic exam data were collected retrospectively. OTSs and categories were determined. Orbital CT images were evaluated by a radiologist to determine decreased globe volume, globe wall irregularity, chorioretinal layer thickening, lens dislocation, asymmetric anterior chamber depth (ACD), abnormal vitreous density, and intraocular air presence. Results: This study included 30 eyes of 30 patients. The majority of patients (n = 20, 66.7%) had Zone I injuries. The most common CT findings were globe wall irregularity (53.3%) and asymmetric ACD (53.3%). No CT findings were observed in 10 patients (33.3%). Globe wall irregularity was the most frequent CT finding in the OTS II category, while asymmetric ACD was most frequent in the OTS IV category. All patients with decreased globe volume, lens dislocation, abnormal vitreous density, and ≥3 CT findings were in the OTS II category. A significant negative correlation was found between the number of CT findings and OTS (r = −0.644, p < 0.001), and a significant positive correlation was found between the number of CT findings and clinically measured wound size (r = 0.600, p < 0.001). Conclusions: CT findings help assess ocular trauma severity, but clinical examination remains essential for accurate diagnosis. Full article

Marfan syndrome (MFS) is a genetic disorder that affects the connective tissue in several systems, with ocular, cardiovascular, and skeletal system manifestations. Its ocular manifestations include ectopia lentis (EL), myopia, astigmatism, and corneal abnormalities. This review examines refractive alterations related to MFS such as EL, microspherophakia, lens coloboma, altered corneal biomechanics (flattening, thinning, and astigmatism), and myopia and their impact on visual acuity. The pathogenesis of these manifestations stems from mutations in the FBN1 gene (encoding fibrillin-1). Moreover, the current medical and surgical management strategies for MFS-related refractive errors, including optical correction (eyeglasses, contact lenses, etc.), and surgical interventions like lensectomy, intraocular lens (IOL) implantation (anterior chamber, posterior chamber, scleral-fixated, iris-fixated), and the use of capsular tension rings/segments are further discussed. Considering the likelihood of underdiagnosing and underestimating ocular involvement in MFS, this updated review highlights the critical need to identify and address these refractive issues to enhance the visual outcomes for those affected. Full article

Background/Objectives: Common Variable Immunodeficiency Disease (CVID) and other immunodeficiencies can present in subtle and variable ways. Whether or not a genetic lesion can be identified, there are not well understood biomarkers that quantitatively describe how severe a deficiency is. Here we discuss two possible ranking systems, CD4/CD8 T cell ratios and Immune Health Grades, and how such data maybe applicable to some immunodeficiencies. Methods: This is not a systematic review, but we identify papers relating to immunodeficiencies with enough data to comment on the CD4/CD8 and Immune Health Grade. We also summarized relevant data publicly available from USIDNET, a website that compiles data on immunodeficiencies, and provide two new cases that illustrate ways that this information can alter clinical assessment. Results: We review the HIV literature on CD4/CD8 T cell data and how this correlates with both immunologic function and comorbidity better than CD4 count alone. The ratio aslso relates to a new system called Immune Health Grades (IHG) derived from young adult to elderly subjects from many NIH cohorts without HIV. CVID is often thought of as an antibody problem, but in fact most patients also have low CD4/CD8 ratio and other cellular abnormalities. We review IDNET to categorize nine molecular immunodeficiencies including two subcategories of CVID into low, normal, or high ratios. Finally, we present two new cases in the literature of patients with recurrent infection and discuss how viewing the cases through the “lens” of CD4/CD8 ratio and IHG can facilitate clinical decisions. Conclusions: Emerging data suggests at least some immunodeficiencies can be grouped by how abnormal their CD4/CD8 ratio or IHG. This represents a clinically available biomarker that can be tracked to see if the condition is worsening or not. Full article

Glaucoma secondary to Peters anomaly is an important factor affecting visual prognosis, but there are few reports on the condition. This study aimed to investigate the characteristics of glaucoma associated with Peters anomaly and glaucoma surgery outcomes. This retrospective study included 31 eyes of 20 patients with Peters anomaly. Peters anomaly was classified into three stages: Stage 1, with a posterior corneal defect only; Stage 2, a corneal defect with iridocorneal adhesion; and Stage 3, a corneal defect with lens abnormalities. The associations between glaucoma and anterior segment dysgenesis severity, visual prognosis, and glaucoma surgery outcomes were analyzed. Sixteen eyes of ten patients developed glaucoma. Stage 1 Peters anomaly had no glaucoma, 52% of Stage 2 had glaucoma, and 75% of Stage 3 had glaucoma. Of the 16 eyes with glaucoma, 11 underwent surgery. Eight of these eleven eyes achieved intraocular pressure (IOP) control. Five of the nine eyes that underwent trabeculotomy (TLO) succeeded, and none had corneal staphyloma. Three of the four eyes for which TLO was ineffective had corneal staphyloma (p = 0.0331). Patients with Peters anomaly are more likely to develop glaucoma as anterior segment dysgenesis progresses, and the effect of TLO is limited if corneal staphyloma is present. Full article

Fabry disease (FD) is an X-linked lysosomal storage disorder, causing Gb-3 (globotriaosylceramide) buildup in cellular lysosomes throughout the body, in particular in blood vessel walls, neuronal cells, and smooth muscle. The gradual accumulation of this glycosphingolipid in numerous eye tissues causes conjunctival vascular abnormalities, corneal epithelial opacities (cornea verticillata), lens opacities, and retinal vascular abnormalities. Although a severe vision impairment is rare, these abnormalities are diagnostic indicators and prognostics for severity. Cornea verticillata is the most common ophthalmic feature in both hemizygous men and heterozygous females. Vessel tortuosity has been linked to a faster disease progression and may be useful in predicting systemic involvement. New technologies such as optical coherence tomography angiography (OCTA) are useful for monitoring retinal microvasculature alterations in FD patients. Along with OCTA, corneal topographic analysis, confocal microscopy, and electro-functional examinations, contributed to the recognition of ocular abnormalities and have been correlated with systemic involvement. We offer an update regarding FD ocular manifestations, focusing on findings derived from the most recent imaging modalities, to optimize the management of this pathology. Full article

Myocilin is an enigmatic glaucoma-associated glycoprotein whose biological role remains incompletely understood. To gain novel insight into its normal function, we used transposon-mediated transgenesis to generate the first zebrafish line stably overexpressing myocilin [Tg(actb1:myoc-2A-mCherry)]. qPCR showed an approximately four-fold increased myocilin expression in transgenic zebrafish embryos (144 hpf). Adult (13 months old) transgenic animals displayed variable and age-dependent ocular anterior segment alterations. Almost 60% of two-year-old male, but not female, transgenic zebrafish developed enlarged eyes with severe asymmetrical and variable abnormalities in the anterior segment, characterized by corneal limbus hypertrophy, and thickening of the cornea, iris, annular ligament and lens capsule. The most severe phenotype presented small or absent ocular anterior chamber and pupils, due to iris overgrowth along with dysplastic retinal growth and optic nerve hypertrophy. Immunohistochemistry revealed increased presence of myocilin in most altered ocular tissues of adult transgenic animals, as well as signs of retinal gliosis and expanded ganglion cells and nerve fibers. The preliminary results indicate that these cells contributed to retinal dysplasia. Visual impairment was demonstrated in all old male transgenic zebrafish. Transcriptomic analysis of the abnormal transgenic eyes identified disrupted expression of genes involved in lens, muscular and extracellular matrix activities, among other processes. In summary, the developed transgenic zebrafish provides a new tool to investigate this puzzling protein and provides evidence for the role of zebrafish myocilin in ocular anterior segment and retinal biology, through the influence of extracellular matrix organization and cellular proliferation. Full article

The deletion of chromosome 11p13 involving the WT1 and PAX6 genes has been shown to cause WAGR syndrome (OMIM #194072), a rare genetic disorder that features Wilms’ tumor, aniridia, genitourinary anomalies, as well as mental retardation. In this study, we expand the genotypic and phenotypic spectrum of WAGR syndrome by reporting on six patients from six unrelated families with different de novo deletions located on chromosome 11p13. Very rare phenotypes of lens automated absorption and lens thinning were detected in four of the six patients. We assessed the involvement of the ARL14EP gene in patients with and without severe lens abnormalities and found that its deletion may worsen the lens abnormalities in these patients. Full article

One of the consequences of the increased level of oxidative stress that often characterizes the cancer cell environment is the abnormal generation of lipid peroxidation products, above all 4-hydroxynonenal. The contribution of this aldehyde to the pathogenesis of several diseases is well known. In this study, we characterized the ADF astrocytoma cell line both in terms of its pattern of enzymatic activities devoted to 4-hydroxynonenal removal and its resistance to oxidative stress induced by exposure to hydrogen peroxide. A comparison with lens cell lines, which, due to the ocular function, are normally exposed to oxidative conditions is reported. Our results show that, overall, ADF cells counteract oxidative stress conditions better than normal cells, thus confirming the redox adaptation demonstrated for several cancer cells. In addition, the markedly high level of NADP⁺-dependent dehydrogenase activity acting on the glutahionyl-hydroxynonanal adduct detected in ADF cells may promote, at the same time, the detoxification and recovery of cell-reducing power in these cells. Full article

The transcription factor PAX6 is essential in ocular development in vertebrates, being considered the master regulator of the eye. During eye development, it is essential for the correct patterning and formation of the multi-layered optic cup and it is involved in the developing lens and corneal epithelium. In adulthood, it is mostly expressed in cornea, iris, and lens. PAX6 is a dosage-sensitive gene and it is highly regulated by several elements located upstream, downstream, and within the gene. There are more than 500 different mutations described to affect PAX6 and its regulatory regions, the majority of which lead to PAX6 haploinsufficiency, causing several ocular and systemic abnormalities. Aniridia is an autosomal dominant disorder that is marked by the complete or partial absence of the iris, foveal hypoplasia, and nystagmus, and is caused by heterozygous PAX6 mutations. Other ocular abnormalities have also been associated with PAX6 changes, and genotype-phenotype correlations are emerging. This review will cover recent advancements in PAX6 regulation, particularly the role of several enhancers that are known to regulate PAX6 during eye development and disease. We will also present an updated overview of the mutation spectrum, where an increasing number of mutations in the non-coding regions have been reported. Novel genotype-phenotype correlations will also be discussed. Full article

As a typical water exchange of surface water and groundwater, hyporheic flow widely exists in streambeds and is significantly affected by the characteristics of sediment and surface water. In this study, a low-permeability clay lens was chosen to investigate the influence of the streambed heterogeneity on the hyporheic flow at a river section of the Xin’an River in Anhui Province, China. A 2D sand tank was constructed to simulate the natural streambed including a clay lens under different velocity of surface water velocity. Heat tracing was used in this study. In particular, six analytical solutions based on the amplitude ratio and phase shift of temperatures were applied to calculate the vertical hyporheic flux. The results of the six methods ranged from −102.4 to 137.5 m/day and showed significant spatial differences. In view of the robustness of the calculations and the rationality of the results, the amplitude ratio method was much better than the phase shift method. The existence of the clay lens had a significant influence on the hyporheic flow. Results shows that the vertical hyporheic flux in the model containing a clay lens was lower than that for the blank control, and the discrepancy of the hyporheic flow field on both sides of the lens was obvious. Several abnormal flow velocity zones appeared around the clay lens where the local hyporheic flow was suppressed or generally enhanced. The hyporheic flow fields at three test points had mild changes when the lens was placed in a shallow layer of the model, indicating that the surface water velocity only affect the hyporheic flow slightly. With the increasing depth of the clay lens, the patterns of the hyporheic flow fields at all test points were very close to those of the hyporheic flow field without a clay lens, indicating that the influence of surface water velocity on hyporheic flow appeared gradually. A probable maximum depth of the clay lens was 30 to 40 cm, which approached the bottom of the model and a clay lens buried lower than this maximum would not affect the hyporheic flow any more. Influenced by the clay lens, hyporheic flow was hindered or enhanced in different regions of streambed, which was also depended on the depth of lens and surface water velocity. Introducing a two-dimensional sand tank model in a field test is an attempt to simulate a natural streambed and may positively influence research on hyporheic flow. Full article

Background and objectives: The aim of this study was to examine via electron microscopy the lens epithelial cells in age-related cataracts and compare the findings between patients with and without exfoliation syndrome, in the Greek population. Materials and Methods: Twenty-one patients with age-related cataracts, older than 60 years, were included in the study. Eleven of them also suffered from exfoliation syndrome. Anterior lens capsules, obtained during phacoemulsification, were examined with a transmission electron microscope. Results: In all cases, ultrastructural features of diffuse intracellular and extracellular oedema were noticed to a varying degree and transparent vacuoles were detected. Often, there was more than one layer of cells, giving the impression that healthier cells tried to cover neighboring cells presenting extensive damage. Commonly, cells lost their regular shape and appeared with expanded nuclei carrying dense granules. Apoptotic cells were also detected. The epithelial cells frequently were completely destroyed or absent, exhibiting loose connections amongst them or with the basement membrane. In exfoliation syndrome (XFS) patients the alterations were more severe. Additionally, the lens epithelial cells (LECs) apical cell membrane appeared with varying distances from the basement membrane, due to different cell “heights”, creating an irregular margin of the epithelium (p < 0.05). Conclusion: Transmission electron microscope (TEM) examination revealed ultrastructural abnormalities in all patients’ lens epithelia, more extended and more frequently observed in XFS group. In all cases, the lesions were comparable to those described in severe pathologies, all of which were excluded from the study. Environmental factors such as increased ultraviolet B (UVB) radiation exposure in Mediterranean countries, genetic factors, epigenetic factors, or all of them, could contribute to these alterations. Further epidemiological and molecular biology research is needed, so as to justify these results. Full article