Search Results (83)

Background: Congenital insensitivity to pain with anhidrosis (CIPA) is a rare autosomal recessive syndrome caused by loss-of-function mutations in the Neurotrophic Tyrosine Kinase Receptor 1 gene, characterized by recurrent episodes of infections and unexplained fever, anhidrosis, absence of reactions to noxious stimuli, intellectual disability, self-mutilating behaviors, and damage to many body organs, including the eyes. Main text: We systematically searched the Medline/PubMed, Scopus, and Web of Science databases from their inception until March 2025 for papers describing the clinical manifestations of patients with CIPA. The inclusion criterion was papers reporting ocular manifestations of patients diagnosed with CIPA. We excluded non-English papers or those reporting ocular manifestations of patients diagnosed with syndromes other than CIPA. Also, we excluded review articles, clinical trials, gray literature, or any paper that did not report ocular manifestations of patients with CIPA or that reported patients with previous ocular surgeries. Out of 6243 studies, 28 were included in the final analysis, comprising 118 patients. The mean age was 7.37 years, and males represented 63.5% (n = 75). Of the patients, fifty-six had bilateral ocular manifestations. The most common ocular manifestations were the absence of corneal reflex in 56 patients (47.5%, bilateral in 56), whereas corneal ulcerations were the second most common manifestation in 46 patients (38.98%, bilateral in 8), followed by corneal opacity in 32 patients (27.11%, bilateral in 19). Topical lubricants, topical antibiotics, and lateral tarsorrhaphy were common management modalities for these patients. Absent corneal sensitivity, corneal ulcers, and corneal opacities, among other manifestations, are common ocular presentations in patients with CIPA. Conclusions: Self-mutilation, intellectual disability, decreased lacrimation, and absence of the corneal reflex are factors that may explain the development of these manifestations in CIPA. The early detection of these manifestations can improve patient conditions and prevent further complications, in addition to helping to guide the clinical diagnosis of CIPA in these patients. Full article

Background: Textural interface opacities (TIOs) following Descemet’s stripping automated endothelial keratoplasty (DSAEK) have become a significant postoperative concern. Studies have explored possible links such as stromal irregularities and viscoelastic usage, but the exact cause of TIOs remains unclear. PURPOSE: To evaluate the relationship between microkeratome dissection parameters and the development of textural interface opacities in DSAEK grafts utilizing the “M-TIO” grading scale for standardized assessment. Methods: Optical coherence tomography (OCT) images of DSAEK-processed corneal grafts, prepared with the same microkeratome and technique for transplantation at Bascom Palmer Eye Institute, underwent blinded analysis using a newly developed grading scale termed “M-TIO”. This analysis aimed to evaluate and categorize the occurrence of TIO, explore its potential correlation with graft characteristics prior to DSAEK preparation, and assess specific stages of the DSAEK dissection process. Data collected included the size of the microkeratome head used, the difference between the head and the actual stromal cut, and the difference between the pre-cut graft thickness and post-cut DSAEK lenticule thickness. Results: The study retrospectively included 422 donor corneas transplanted from 2019 to 2023. Variables associated with TIO in the final multivariable ordinal logistic model included the difference between the pre-cut graft thickness and the post-cut DSAEK lenticule thickness (OR: 1.57 [99% CI: 1.22 to 2.06] per 50 µm) and microkeratome head (OR: 6.95 [99% CI: 1.04 to 36.60] 300 µm, OR: 4.39 [99% CI: 0.76 to 19.00] 350 µm, and OR: 18.86 [99% CI: 2.35 to 175.91] 400 µm vs 450 or 500 µm, respectively). Conclusions: This study identified a statistically significant association between TIOs and the microkeratome DSAEK preparation, proposing several factors that could help prevent its occurrence. Specifically, creating an ultra-thin DSAEK lenticule from an initially thick graft using a smaller microkeratome head with the slow single-pass technique may increase the risk of TIOs. In contrast, utilizing a larger microkeratome head can improve stromal thickness consistency, reduce technical challenges during graft preparation, and lower the risk of TIOs. Full article

This study investigates the cognitive processing of Spanish idioms from a pragmatic perspective, with the goal of examining the idiom superiority effect. An eye-tracking experiment was conducted with 77 participants to assess how idiomaticity influences processing and whether heritage speakers align more with L1 or L2 patterns. Results show a processing advantage for idioms among L1 speakers, suggesting reduced cognitive load in later stages. Both heritage and L2 speakers showed longer reading times, but only L2 speakers benefited consistently from idiomaticity. Heritage speakers processed idioms more slowly, indicating difficulty with opacity despite early exposure. Findings support hybrid models of idiom processing and highlight the unique strategies of heritage speakers shaped by dual input sources. Full article

Background: Textural Interface Opacities (TIOs) following Descemet’s Stripping Automated Endothelial Keratoplasty (DSAEK) have become a notable postoperative concern. Several studies have attempted to identify associations between TIO development and intraoperative factors, including fluid dynamics, irregular stromal surfaces, viscoelastic usage, and recipient immunological responses. Despite these efforts, the precise etiology of TIO remains uncertain. TIO has not been considered predictable in the preoperative setting. Its detection has relied exclusively on slit-lamp biomicroscopy, a subjective approach lacking standardized diagnostic criteria, which limits diagnostic reliability and is highly susceptible to interobserver variability. Methods: Optical Coherence Tomography (OCT) images of DSAEK-processed corneal grafts, prepared using the same microkeratome and technique for transplantation at the Bascom Palmer Eye Institute, underwent blinded analysis using a newly developed grading scale termed “M-TIO”. This analysis focused on DSAEK-processed grafts OCT images to evaluate and categorize the occurrence of TIO and assess the final visual acuity of the patients at the 1-year postoperative evaluation. Results: Based on the results, the M-TIO grading scale demonstrated strong predictive value, with higher grades on OCT of DSAEK lenticules consistently associated with worse postoperative visual acuity. The study included 221 donor corneas transplanted from 2019 to 2023. Greater TIO based on the “M-TIO” grading scale was associated with worse recipient logMAR VA (Mean 0.151 [99% CI: 0.077 to 0.225] for corneas with no TIO, increased to 0.680 [99% CI: 0.532 to 0.828] for corneas with the greatest TIO grade). These findings highlight the clinical utility of the M-TIO scale as an objective and reliable preoperative tool for assessing graft quality and predicting postoperative visual outcomes. Conclusions: This study introduces the “M-TIO” grading scale, which provides a standardized and objective method for evaluating Textural Interface Opacities in DSAEK grafts prior to transplantation. Our results demonstrate a clear association between the severity of TIO as graded by the M-TIO scale, and postoperative visual outcomes, with higher TIO grades correlating with worse visual acuity, emphasizing its value in improving graft selection, and clinical decision-making in DSAEK. Full article

Background/Objectives: The management of ocular tumors often necessitates surgery, either alone or in combination with radiotherapy, chemotherapy, or other modalities. While crucial for tumor control, these treatments can significantly impact the ocular surface, leading to both acute and chronic complications. This review examines iatrogenic ocular surface diseases resulting from oncologic interventions, emphasizing their pathophysiology, diagnostic challenges, and management strategies. Methods: A literature review was conducted to identify studies on iatrogenic ocular surface complications associated with ocular tumor treatments. Results: Ocular surface complications include direct damage from surgical manipulation, leading to corneal opacities and persistent epithelial defects, as well as dry eye disease secondary to postoperative chemosis. These disruptions may progress to more severe conditions such as keratopathy, corneal ulcers, limbal stem cell deficiency, and stromal scarring, further impairing visual function. Structural alterations contribute to eyelid malpositions—including ectropion, entropion, round eye, and lagophthalmos—which exacerbate exposure-related damage and ocular surface instability. In cases of uveal melanomas, the exposure of episcleral brachytherapy plaques can induce chronic conjunctival irritation, promoting adhesion formation and symblepharon. Surgical interventions disrupt ocular surface homeostasis, while radiotherapy and chemotherapy exacerbate these effects through cytotoxic and inflammatory mechanisms. Conclusions: Preventing and managing iatrogenic ocular surface complications require a multidisciplinary approach involving early diagnosis, personalized treatment strategies, and targeted postoperative care. Comprehensive pre- and postoperative planning is essential to optimize both visual function and long-term ocular surface integrity, ultimately ensuring a balance between oncologic control with functional and aesthetic preservation. Full article

This study investigates how Chinese EFL (English as a foreign language) learners of low- and high-proficiency levels allocate attention between captions and audio while watching videos, and how visual complexity (single- vs. multi-speaker content) influences caption reliance. The study employed a novel paused transcription method to assess real-time processing. A total of 64 participants (31 low-proficiency [A1–A2] and 33 high-proficiency [C1–C2] learners) viewed single- and multi-speaker videos with English captions. Misleading captions were inserted to objectively measure reliance on captions versus audio. Results revealed significant proficiency effects: Low-proficiency learners prioritized captions (reading scores > listening, Z = −4.55, p < 0.001, r = 0.82), while high-proficiency learners focused on audio (listening > reading, Z = −5.12, p < 0.001, r = 0.89). Multi-speaker videos amplified caption reliance for low-proficiency learners (r = 0.75) and moderately increased reliance for high-proficiency learners (r = 0.52). These findings demonstrate that low-proficiency learners rely overwhelmingly on captions during video viewing, while high-proficiency learners integrate multimodal inputs. Notably, increased visual complexity amplifies caption reliance across proficiency levels. Implications are twofold: Pedagogically, educators could design tiered caption removal protocols as skills improve while incorporating adjustable caption opacity tools. Technologically, future research could focus on developing dynamic captioning systems leveraging eye-tracking and AI to adapt to real-time proficiency, optimizing learning experiences. Additionally, video complexity should be calibrated to learners’ proficiency levels. Full article

Background/Objectives: Epithelial basement membrane dystrophy (EBMD) is a common corneal dystrophy characterized by recurrent corneal erosions and visual impairments due to surface irregularities and opacities. This study aims to evaluate the effectiveness of alcohol-assisted delamination (ALD) of the corneal epithelium in patients with EBMD affecting the visual axis, who experience decreased vision quality due to higher-order aberrations (HOAs) and irregular astigmatism. Methods: Eleven eyes of nine patients (four males and five females) were treated with ALD, with a mean age of 51.3 ± 19.7 years. All patients underwent refraction, best-corrected visual acuity (BCVA) assessment, a comprehensive slit-lamp examination for EBMD pattern identification, anterior segment imaging with and without fluorescein, tear break-up time (BUT) testing, corneal topography, corneal aberrometry (Zernike coefficients ($Z_n^m$) were calculated for a 5.0 mm simulated pupil), and anterior segment optical coherence tomography preoperatively and at 1-day, 14-day, 1-month, 3-month, 6-month, and 12-month intervals. Results: All patients demonstrated improvements in BCVA and visual quality, ocular comfort, and BUT results. The mean root mean square (RMS) value of total corneal aberrations decreased from 1.72 ± 0.90 μm to 0.90 ± 0.62 μm, while the mean RMS value of HOAs reduced from 0.92 ± 0.48 μm to 0.53 ± 0.28 μm. Astigmatism and trefoil were the aberration components that exhibited the most significant reductions. Conclusions: Alcohol-assisted delamination of the corneal epithelium is a safe and effective treatment for central EBMD patients experiencing visual quality deterioration. Astigmatism and trefoil appear to be the primary aberrations contributing to visual disturbances in this patient population. Full article

Cataracts, the leading cause of blindness globally, are caused by oxidative stress and inflammation, which disrupt lens transparency due to increased accumulation of reactive oxygen species (ROS) as well as protein and DNA damage during aging. Using in vitro, ex vivo, and in vivo models, we determined the protective efficacy of N-acetylcysteine amide (NACA) against oxidative stress-induced and aging-induced cataractogenesis. We found that lens epithelial cells exposed to the oxidative stress inducers hydrogen peroxide (H₂O₂) or tert-butyl hydroperoxide showed significant ROS accumulation and reduced cellular viability. These effects were inhibited by NACA via the suppression of ROS and thioredoxin-interacting protein (Txnip) expression, a regulator of oxidative stress-related cellular damage and inflammation. In ex vivo lens experiments, NACA significantly reduced H₂O₂-induced lens opacity and preserved lens integrity. Similarly to NACA-treated lenses ex vivo, the integrity and opacity of aged mouse lenses, when topically instilled with NACA, were preserved and reduced, respectively, and are directly related to reduced Txnip and increased thioredoxin (Trx) expression levels. Overall, our findings demonstrated the protective ability of NACA to abate aberrant redox-active pathways, particularly the ROS/TRX/TXNIP axis, thereby preventing cataractogenesis and preserving eye lens integrity and ultimately impeding aging-related cataracts. Full article

Background Despite many studies on polymer-incorporated nanocarriers for ophthalmic drug delivery, few have thoroughly explored the relationship between coating composition and performance. This study aimed to evaluate the effects of three commonly used cationic polymers—distearoyl phosphatidylethanolamine-polyethylene glycol 1000-poly(amidoamine) (DSPE-PEG1000-PAMAM), trimethyl chitosan (TMC), and (2,3-dioleoyloxypropyl) trimethylammonium chloride (DOTAP)—on the corneal behaviors and anti-cataract efficacy of diosmetin (DIO)-loaded micelles (D-M-P, D-M-T, and D-M-D, respectively). Methods The DIO-loaded micelles were prepared using the thin-film dispersion method and incorporated with the three polymers through hydrophobic interactions and electrostatic adsorption. Structural characterization was demonstrated by TEM imaging and particle size analyzer. In vitro release behavior was detected by the dialysis method. Cell viability of D-M-P, D-M-T, and D-M-D on L929 cells was detected by CCK-8 assays, with cellular uptake performed using coumarin 6 as the fluorescence indicator. Precorneal retention behaviors of these three vesicles were observed by In Vivo Imaging System. Transcorneal permeability was determined by modified Franz diffusion method and the permeation routes of the vesicles are investigated. Selenite-induced cataract model was established. The anti-cataract effects of three different DIO-loaded micelles were evaluated by the observation of lens opacity and antioxidant enzyme activities. Eye Irritation of the DIO in different preparations was estimated using the Draize test, along with H&E staining of the corneas. Results Structural characterization of DIO-loaded micelles revealed that the vesicles were spherical, with a uniform size distribution of around 28 nm, a similar surface potential of approximately 6.0 mV, and a high DIO entrapment efficiency of about 95%. Compared to the DIO suspension, all three formulations exhibited a significant sustained-release effect. They showed no signs of irritation and demonstrated increased IC50 values in L929 cells, indicating improved biocompatibility. Cellular uptake in human lens epithelial cells (HLECs) was assessed using confocal laser scanning microscopy. C-M-T displayed the highest fluorescence signals, with a cellular internalization 3.2 times greater than that of the solution group. Both C-M-T and C-M-P enhanced vesicle retention on the corneal surface by at least 47.8% compared to the Cou-6 solution. Furthermore, TMC facilitated the paracellular transport of vesicles into the deepest layers of the cornea and delivered DIO across the cornea, with a P_app value 3.11 times and 1.49 times those of D-M-D and D-M-P, respectively. In terms of therapeutic efficacy, D-M-T demonstrated the most significant attenuation of lens opacity, along with enhanced antioxidant enzyme activities and inhibition of lipid peroxidation. Conclusion The modification of micelle vesicles with different cationic polymers significantly influences their performance in ocular drug delivery. Among the tested formulations, D-M-T stands out due to its multiple advantages, including enhanced transcorneal drug delivery, therapeutic efficacy for DIO, and safety, making it the most promising candidate for ophthalmic applications. Full article

Fuchs’ endothelial corneal dystrophy (FECD) is a progressive eye disease characterized by accelerated loss of endothelial cells and the development of focal excrescence (guttae) on Descemet’s membrane, resulting in cornea opacity and vision deterioration. The development of FECD is assumed to be due to the interplay between genetic and environmental factor risks, causing abnormal extracellular-matrix organization, increased oxidative stress, apoptosis and unfolded protein response. However, the molecular knowledge of FECD is limited. The development of genome-wide platforms and bioinformatics approaches has enabled us to identify numerous genetic loci that are associated with FECD. In this review, we gathered genome-wide studies (n = 31) and sorted them according to genomics (n = 9), epigenomics (n = 3), transcriptomics (n = 15), proteomics (n = 3) and metabolomics (n = 1) levels to characterize progress in understanding FECD. We also extracted validated differentially expressed/spliced genes and proteins identified through comparisons of FECD case and control groups. In addition, highlighted loci from each omics layer were combined according to a comparison with similar study groups from original studies for downstream gene-set enrichment analysis, which provided the most significant biological pathways related to extracellular-matrix organization. In the future, multiomics study approaches are needed to increase the sample size and statistical power to identify strong candidate genes for functional studies on animal models and cell lines for better understanding FECD. Full article

Background/Objectives: Cataract surgery has evolved into a refractive procedure aimed at optimizing both vision quality and quantity. Modern patients, particularly “baby boomers”, expect superior outcomes, increasing demand for premium intraocular lenses (IOLs). However, ocular surface dysfunction (OSD), especially dry eye disease (DED), compromises postoperative satisfaction, with up to 35% of patients dissatisfied despite achieving 20/20 visual acuity. This study aimed to characterize postsurgical ocular surface system failure (OSSF) and explore strategies to improve perioperative management. Methods: An open observational study was conducted at the Ophthalmology Complex Operative Unit, University Campus Bio-Medico, Rome, Italy, enrolling 20 patients with stage N2–3 and C1–2 lens opacities. Patients with diabetes, prior surgeries, or ocular inflammatory diseases were excluded. Preoperative and postoperative assessments included OSDI, SANDE scores, Schirmer test, TBUT, and fluorescein staining. Follow-ups occurred at 1 week, 1 month, and 3 months postoperatively. Statistical analysis used two-way ANOVA (p < 0.05). Results: Despite achieving a BCVA of 20/20, 44% of patients reported OSSF symptoms. Postoperative evaluations revealed significant worsening in OSDI and SANDE scores (p < 0.001), Schirmer test (preoperative mean 19.92 ± 10.06; p < 0.001), and TBUT (preoperative mean 5.88 ± 2.64 s; p < 0.001). Meibomian gland dysfunction and conjunctival hyperemia also worsened. Conclusions: Postsurgical OSSF results from neurogenic inflammation, tear film instability, and meibomian gland dysfunction, exacerbated by surgical trauma. Preoperative and postoperative management, including artificial tears, lid hygiene, and preservative-free regimens, are essential to improve outcomes and patient satisfaction. Comprehensive strategies can mitigate symptoms and enhance the benefits of cataract surgery. Full article

(1) Background: The phenotypes of classic lattice corneal dystrophy (LCD) and granular corneal dystrophy type 2 (GCD2) that result from abnormalities in transforming growth factor β-induced gene (TGFBI) have previously been described. The phenotype of compound heterozygous classic LCD and GCD2, however, has not yet been reported. (2) Case report: A 39-year-old male (proband) presented to our clinic complaining of decreased vision bilaterally. A slit-lamp examination revealed corneal opacities consistent with classic LCD. Contrast sensitivity (CS) was decreased. A genetic analysis performed with commercially available real-time polymerase chain reaction (PCR) showed both homozygous classic LCD and homozygous GCD2. Sanger sequencing performed in our lab suggested compound heterozygosity for c.370C>T and c.371G>A variants, which was confirmed by the TA cloning of exon 4 of TGFBI and sequencing of clones. Phototherapeutic keratectomy (PTK) was performed on the right eye of the proband, and the CS improved. (3) Conclusions: Compound heterozygous classic LCD and GCD2 produces clinical findings like that of severe, classic LCD. PTK can improve VA and CS, delaying the need for keratoplasty. Full article

Purpose: To assess the long-term outcomes of combined penetrating keratoplasty (PKP) and pars plana vitrectomy (PPV). Methods: A retrospective review of eyes that underwent combined surgery followed for 12 months or longer. Demographic data, indications for surgery, and pre-/post-surgical eye examinations were retrieved. Results: Thirteen consecutive eyes (13 patients) were enrolled. The mean age was 51.5 ± 20.5 years, and the mean follow-up time was 67 ± 36.9 months. All cases had severe corneal opacity. Indications for surgery included retinal detachment (76.9%), dropped lens (7.7%), dropped intraocular lens (7.7%), and endophthalmitis with corneal abscess (7.7%). Visual acuity improved in 46.1% of the cases, though in most cases visual acuity remained low, and decreased in 23% of the cases. In 23% of the cases (3 eyes), ambulatory vision was achieved for more than 12 months and in 15.4% for three years. Silicone oil tamponade was used in all cases of retinal detachment (10 eyes). Of these eyes, at the final follow-up, four eyes were attached, two eyes were partially attached, and corneal opacity prevented retinal visualization in three eyes. One eye was eviscerated and one eye developed phthisis. Postoperatively, 61.5% of the cases underwent repeated PKP for graft decompensation. At the final visit, graft failure was observed in 75% of the cases. Conclusions: The long-term follow-up of eyes that underwent combined PKP and PPV supports this technique in complex cases for eye and vision preservation. The main problem after combined surgery is the long-term survival of the corneal graft which may require repeated PKP surgeries. With this approach, in 23% of the cases, ambulatory vision was maintained for more than 12 months. Full article

Background/Objectives: Sun exposure and ultraviolet (UV) radiation significantly affect human health, especially concerning skin and eye conditions. Sun exposure is a risk factor for both cutaneous melanoma (CM) and cataract. To investigate the association between CM, cataract and the number of common melanocytic nevi (CMNs) in the Lithuanian population. Methods: A case–control study with 180 primary diagnosed CM subjects and 182 healthy controls was conducted. Participants underwent ophthalmic and dermatological examination, where a counting of the common melanocytic nevi (CMNs) on the face, outer surfaces of the upper arms, lower arms and hands was performed. A detailed ophthalmic slit lamp examination was conducted; additionally, lens status and cataract formation were evaluated according to the Lens Opacities Classification System III (LOCS III). Results: Subjects with an LOCS III grade of nuclear opalescence (NO) ≥3 had a 1.82 times higher risk of CM, and patients with a nuclear color (NC) grade ≥3 had a 2.02 times higher risk of CM. LOCS III evaluations of cortical (C) and of posterior subcapsular (P) cataract showed a 5.24 and 6.34 times increased risk of CM, respectively. The CMN number on the face increased CM risk by 1.25 times; on the outer surface of the upper and lower arms, correspondingly 1.05 and 1.04 times; and on outer surface of hands—1.29 times. Conclusions: All types of cataracts were found more often in patients with CM than in healthy subjects. The number of CMNs on the face and outer surfaces of arms and hands could be an indicator of higher risk for CM. Full article

Background: Neuronal intranuclear inclusion disease (NIID) is a progressive neurodegenerative disorder characterized by the formation of intranuclear inclusions in cells. Adult-type NIID usually develops in elderly patients with various clinical manifestations and is sometimes accompanied by ocular symptoms. A case of adult-onset NIID with early and unique manifestations, including a progressive corneal defect and retinal changes, which are concerning at a young age, is reported. Case Presentation: A 29-year-old woman with adult sporadic NIID presented to our department with a progressive corneal disorder. Her neurological symptoms started at the age of 22 years, and she was diagnosed with NIID by skin biopsy and genetic testing. Ocular examination revealed bilateral corneal superficial punctate keratitis, right corneal opacity, decreased vision, nocturnal lagophthalmos, and early retinal changes. Corneal nerve fiber atrophy was detected by in vivo confocal microscopy. With a Cochet–Bonnet aesthesiometer, the progression of NIID and decreased corneal sensation were confirmed. Findings consistent with neurotrophic keratitis and keratoconjunctivitis due to nocturnal lagophthalmos were both suggested as being complications of her underlying NIID. Treatment with punctal plugs, sodium hyaluronate eye drops, diquafosol sodium eye drops, systemic and local antivirals, and local steroid medications resulted in the gradual improvement in the irregularity and opacity of the epithelium. Conclusions: NIID may lead to neurotrophic keratopathy due to impairment of the corneal sensory nerves. Nocturnal lagophthalmos is a remarkable finding in a case of NIID. The findings in the present case highlight the complex and multifaceted nature of NIID, with neurological and ocular manifestations requiring a multidisciplinary approach to management. Full article