Search Results (178)

Eye movements are regulated by the ocular motor nerves (cranial nerves [CNs] III, IV, and VI), which control the six extraocular muscles of each eye. Palsies of CNs III, IV, and VI can restrict eye movements, resulting in strabismus and diplopia, and so clinical evaluations of eye movements are crucial for diagnosing CN palsies. This study aimed to develop an accurate artificial intelligence (AI) system for classifying CN III, IV, and VI palsies using nine-gaze ocular photographs. We analyzed 478 nine-gaze photographs comprising 70, 29, and 58 cases of CN III, IV, and VI palsies, respectively. The images were processed using MATLAB. For model training, each photograph of eye movements in the nine directions was numerically coded. A multinetwork model was employed to ensure precise analyses of paralytic strabismus. The AI system operates by referring data on minor abnormalities in the nine-gaze image to a network designed to detect CN IV abnormalities, which re-examines downward and lateral gazes to detect distinctions. Data on major abnormalities are directed to a different network trained to differentiate between CN III and VI abnormalities. EfficientNet-B0 was applied to reduce overfitting and improve learning efficiency in training with limited medical imaging data as the neural network architecture. The diagnostic accuracies of the proposed network for CN III, IV, and VI palsies were 99.31%, 97.7%, and 98.22%, respectively. This study has demonstrated the design of an AI model using a relatively small dataset and a multinetwork training system for analyzing nine-gaze photographs in strabismus patients with CN III, IV, and VI palsies, achieving an overall accuracy of 98.77%. Full article

Strabismus, or squint or deviating eyes, is defined as misalignment of the eyes when fixating on an object and is a common problem in ophthalmology. Palsy of the third, fourth or sixth cranial nerve is one of the leading underlying causes for paralytic strabismus, often requiring surgery. However, uncertainty regarding factors influencing surgical success remains. Background/Objectives: The purpose of this study is to review the outcome and influencing factors of strabismus surgery in patients with cranial nerve palsy. Methods: A retrospective study of 57 patients with third cranial nerve (CN3) palsy, fourth cranial nerve (CN4) palsy, sixth cranial nerve (CN6) palsy or combined nerve palsy who underwent strabismus surgery between October 2009 and December 2023 was conducted. Analyzed data included demographic details, type of surgical intervention, etiology of nerve palsy, pre- and postoperative angle of deviation (AOD), vertical deviation (VD), best-corrected visual acuity (BCVA), and refractive error. Results: Mean age was 41.29 ± 23.14 years with a mean follow-up of 10.8 ± 15.38 months. 30 patients (52.63%) had CN6 palsy, 12 patients (21.05%) had CN3 palsy, eight patients (14.04%) had CN4 palsy and seven patients (12.28%) had combined nerve palsy. Brain neoplasm was the most common cause of nerve palsy (33.33%). Mean preoperative AOD improved from 17.54° ± 10.68 to 7.13° ± 8.93 and from 17.21° ± 9.58 to 7.49° ± 9.75 for near and distance, respectively (p < 0.001). Changes in VD, refractive error, and BCVA were not statistically significant. Conclusions: Age, gender, preoperative AOD, subtype and etiology of nerve palsy had no significant influence on surgical outcomes, which are satisfactory in patients with cranial nerve palsy (80.7%). Full article

Background and Objectives: Postoperative nausea and vomiting (PONV) is a common and potentially crucial side effect in pediatric patients. Neuromuscular blockade reversal drugs (NMBRDs) used during surgery have been associated with PONV. This study investigated whether sugammadex, a recently approved NMBRD for children in Korea, induces PONV and possible changes after NMBRD administration in children undergoing strabismus surgery. Materials and Methods: In total, 60 pediatric patients (3–16 years old) undergoing strabismus surgery with general anesthesia were included. They were divided into two groups: sugammadex (group S, n = 30) or pyridostigmine (group P, n = 30). The primary endpoint was the incidence of PONV using the Baxter Animated Retching Faces (BARF) scale at 0.5, 1, 3, and 6 h after NMBRD administration. The secondary endpoints included the recovery time (train-of-four > 0.9) and changes in heart rate following NMBRD administration. Results: There was no significant difference in PONV incidence between the groups according to the BARF scale (13.3% vs. 13.3% at 0.5 h, 6.7% vs. 3.3% at 1 h). Sugammadex demonstrated a significantly faster recovery time than pyridostigmine (p < 0.001). The changes in heart rate were more significant in the sugammadex group than those in the pyridostigmine group after NMBRD administration (p < 0.001); however, the heart rate returned to preoperative levels without any need for rescue medications or anticholinergics during the emergence period. Conclusions: There was no significant difference in PONV incidence between the administration of sugammadex and pyridostigmine in pediatric patients after strabismus surgery. Nevertheless, sugammadex appeared to facilitate faster recovery from the neuromuscular blockade without requiring intervention for the heart rate. Full article

Background and Objectives: Children with autism spectrum disorder (ASD) often experience visual problems, yet their ophthalmic health remains underexplored due to testability challenges and limited-service access. This study evaluated ophthalmic screening outcomes in children with ASD and examined whether autism severity influenced ocular findings or cooperation during examinations. Materials and Methods: This cross-sectional study included 210 children with ASD (mean age 8.18 ± 4.99 years; 83.3% male). Examinations were conducted in an autism education center using non-contact methods: stereopsis (LANG I stereotest; LANG-STEREOTEST AG, Küsnacht, Switzerland), cover–uncover, and Hirschberg tests for strabismus, Spot Vision Screener (Welch Allyn Inc., Skaneateles Falls, NY, USA) for refractive errors, and Brückner test for red reflex. Autism severity was assessed with the Turkish version of the Adapted Autism Behavior Checklist (AABC). Results: Refractive errors were identified in 22.3% of participants: astigmatism in 15.2%, myopia in 5.2% (including 3 high myopia), and hyperopia in 1.9%. Strabismus was present in 11.9%, most commonly intermittent exotropia. Nearly half (49.5%) could not complete stereopsis testing, and a weak positive correlation was observed between AABC scores and the higher absolute spherical equivalent (SE) value between the two eyes (r = 0.173, p = 0.044). Children unable to complete stereopsis testing had significantly higher AABC scores (22.66 ± 9.69 vs. 13.39 ± 9.41, p < 0.001). Notably, 50 children (23.8%) had never undergone an eye examination prior to this study. Conclusions: Ophthalmic findings, particularly astigmatism and strabismus, are common in children with ASD. Greater autism severity was associated with reduced testability and modestly worse refractive error status. These findings suggest that tailored, accessible eye-care approaches and systematic vision screening may help to reduce overlooked visual problems and support more equitable care for children with ASD. Full article

Background/Objectives: Childhood eye disorders, including refractive errors, strabismus, and amblyopia, are prevalent yet often underdiagnosed in Saudi Arabia. Limited data on barriers to pediatric eye care hinder efforts to optimize service delivery. This study aimed to identify barriers to accessing pediatric eye care and to develop consensus-based strategies for improvement. Methods: A Delphi technique involving three iterative rounds of questionnaires was conducted with a panel of 22 eye care experts across Saudi Arabia. Consensus was defined as ≥80% agreement among participants. In total, 30 statements were developed from thematic analysis of open-ended responses and a supporting literature review. Panelists rated each statement on a five-point Likert scale, and descriptive statistics were applied. Internal consistency across rounds was assessed using Cronbach’s alpha. Results: Of the 30 proposed statements, 25 (83.3%) reached consensus, with a mean agreement score of 4.45 ± 0.59. Internal consistency was high (Cronbach’s alpha = 0.92). High-priority recommendations included implementing mandatory vision screening, integrating optometrists into primary healthcare, and establishing specialized pediatric eye care centers. Other recommendations emphasized expanding mobile clinics and increasing public awareness. Areas that did not reach consensus included referral inefficiencies, adequacy of the current workforce, and school accommodations for children with visual impairment. Conclusions: This study presents the first national consensus on pediatric eye care in Saudi Arabia and provides actionable recommendations to strengthen services. The findings offer a strategic framework to guide policy, enhance workforce development, and reduce childhood visual impairment through early detection and intervention. Full article

Background: The goal of the study was to describe the visual function characteristics of children with developmental epileptic encephalopathy resulting from mutations in the STXBP1 gene. Methods: The study included 26 consecutive patients from the Polish STXBP1 population (11 male and 16 female; mean age: 7 years and 4 months; SD 4.03; range: 2–16 years) evaluated at a single center for strabismus and binocular vision. Data were obtained from medical records, including ophthalmological, neurological, and genetic information, as well as orthoptic and ophthalmological examinations performed in the clinic. Results: No major eye disorders were identified during the ophthalmological evaluation. The average prevalence of hyperopia was 76.9% (mean for OD, OS), with hyperopia above 4.25 D occurring in 17.3% (n = 4) of participants. Astigmatism was present in 96.2% of patients, with values ≥ 2.75 D in 27% (n = 7) of the group. The mean disc–foveal angle across all subjects was 7.23° ± 6.85° (range: −10.34° to 19.77°). Convergence was absent in 53.8% (n = 14) of patients. Mean accommodation responses equal to or higher than +1.0 D in any eye were noted in 90.5% of subjects. The mean accommodative/convergence (AC/A) ratio was 1.16 (SD 1.05; range: 0–3.3). Fusion was diagnosed using the 20 base-out prism test in 77% (n = 20) of patients, of which 85% (n = 17) had a positive response. Conclusions: This is the first study to comprehensively assess visual function in children with STXBP1 synaptopathy. Binocular vision development in individuals with STXBP1 differs from that of the general population. Considering the high prevalence of refractive errors, deficits in accommodation, and a low AC/A ratio, early visual diagnostics and the use of corrective eyewear are recommended in these patients. Full article

Background/Objectives: Malignant hyperthermia (MH) is a pharmacogenetic hypermetabolic syndrome triggered by halogenated agents/succinylcholine. Most families present variants in the RYR1 and, rarely, in other genes (CACNA1S/STAC3/ASPH). However, each country or region presents differences in the type and frequency of MH variants. Objective: To present the genetic characteristics of Brazilian individuals with MH history. Methods: We reviewed clinical and laboratory data from all families referred for evaluation in the Brazilian MH unit due to a personal or family history of MH during anesthesia. Demographic and clinical data were collected, as well as serum creatine kinase (CK) levels, in vitro contracture test (IVCT) results, and the results of anatomopathological studies of skeletal muscle. Molecular analysis was performed using whole-exome sequencing (WES). Patients with and without variants were compared. Results: WES analysis was available for 61 patients (29 patients who survived an MH crisis and 32 relatives). Variants in the RYR1 were found in 38 patients (62.2%), and no variants were identified in 20 patients (32.7%). More than one variant in the RYR1 was found in six individuals. Variants in the CACNA1S were found in three patients (4.9%), all of them with concomitant variants in the RYR1. Three patients presented variants in the STAC3 (4.9%). Comparing the groups of patients with variants in the RYR1 with the one with no variants in this gene, it was observed that the first group showed higher levels of serum CK, a greater frequency of ptosis, strabismus, and cores, and a higher amplitude of contracture in the IVCT after caffeine or halothane. Conclusion: In this preliminary evaluation of Brazilian individuals with MH history, the frequency of RYR1 variants was similar to those of previous reports in other countries, but there was a higher frequency of STAC3 and CACNA1S variants. Full article

Background/Objectives: To develop a new Virtual Reality (VR) system software for measuring ocular deviation in strabismus patients. Methods: This prospective study included subjects with basic-type exotropia (XT) and non-refractive accommodative esotropia (ET). Ocular deviation was measured using the alternate prism cover test (APCT) and two VR-based methods: target offset (TO) and a newly developed camera rotation (CR) method. Results: A total of 28 subjects were recruited (5 cases were excluded for preliminary testing and 5 for not meeting inclusion criteria). Among the 18 included patients, 10 (66.7%) had XT and 5 (33.3%) had ET. The median age was 21.5 years (IQR 17 to 25). The mean age was 22.3 years (range: 9–46), with 5 (27.8%) having manifest strabismus and 12 (61.1%) measured while wearing glasses. VR-based methods (TO and CR) showed comparable results to APCT for deviation angle measurements (p = 0.604). Subgroup analysis showed no significant differences in ET patients (all p > 0.05). In XT patients, both TO and CR underestimated deviation angles compared to APCT (p = 0.008 and p = 0.001, respectively), but no significant difference was observed between the two methods (p = 0.811). Linear regression showed CR had a stronger correlation with APCT than TO (R² = 0.934 vs. 0.874). Conclusions: This newly developed VR system software, incorporating the CR method, provides a reliable approach for measuring ocular deviation. By shifting the entire visual scene rather than just the target, it lays a strong foundation for immersive diagnostic and therapeutic VR applications. Full article

Protein toxins are biologically active polypeptides produced by a variety of organisms, including bacteria, plants, fungi, and animals. These molecules exert potent and specific toxic effects on target cells and are primarily associated with pathogenicity and defense mechanisms of the organisms. In the past few decades, significant progress has been made in understanding their structure, mechanisms of action, and regulation. Among these, bacterial protein toxins have emerged as valuable tools particularly in the development of targeted therapies. A notable example is Botulinum toxin, originally known for its neurotoxic effects, which was approved as a therapeutic agent in 1989 for strabismus treatment, paving way for repurposing bacterial toxins for clinical use. This review provides an overview of the different classes of bacterial toxin-based therapeutics, with a particular focus on Pseudomonas exotoxin A (PE) from Pseudomonas aeruginosa and anthrax toxin from Bacillus anthracis. The modular architecture and potent cytotoxicity of these A-B type toxins have enabled their successful adaptation into targeted cancer therapies. The clinical approval of the PE-based immunotoxin, moxetumomab pasudotox, for the treatment of hairy cell leukemia, underscores the potential of this strategy. This review also discusses current challenges and outlines future directions for the advancement of bacterial toxin-based therapeutics. Full article

Background: Stevens–Johnson Syndrome (SJS) and Toxic Epidermal Necrolysis (TEN) are rare, life-threatening mucocutaneous disorders often associated with severe ophthalmic complications. Ocular involvement occurs in 50–68% of cases and can result in permanent vision loss. Despite this, optimal management strategies remain unclear, and treatment practices vary widely. Methods: A systematic review was conducted in accordance with PRISMA guidelines and prospectively registered on PROSPERO (CRD420251022655). Medline, Embase, and CENTRAL were searched from 1998 to 2024 for English-language studies reporting treatment outcomes for ocular SJS/TEN. Results: A total of 194 studies encompassing 6698 treated eyes were included. Best-corrected visual acuity (BCVA) improved in 52.2% of eyes, epithelial regeneration occurred in 16.8%, and symptom relief was reported in 26.3%. Common treatments included topical therapy (n = 1424), mucosal grafts (n = 1220), contact lenses (n = 1134), amniotic membrane transplantation (AMT) (n = 889), systemic medical therapy (n = 524), and punctal occlusion (n = 456). Emerging therapies included TNF-alpha inhibitors, anti-VEGF agents, photodynamic therapy, and 5-fluorouracil. Conclusions: Disease-stage-specific therapy is crucial in ocular SJS/TEN. Acute interventions such as AMT may prevent long-term complications, while chronic care targets structural and tear-film abnormalities. Further prospective studies are needed to standardize care and optimize visual outcomes. Full article

Retinoblastoma is a rare but malignant pediatric retinal tumor, affecting 1 in 15,000–20,000 live births annually. It arises from biallelic mutations in the RB1 tumor suppressor gene (chromosome 13q14.2), leading to uncontrolled cell cycle progression. Clinically, it presents as unilateral (60%) or bilateral (40%) disease, with leukocoria and strabismus as hallmark signs. Untreated, retinoblastoma is fatal due to metastatic spread. The disease follows Knudson’s two-hit model: heritable forms (30–40% of cases) involve a germline RB1 mutation (M1) and a somatic second hit (M2), predisposing to bilateral/multifocal tumors and secondary cancers. Non-heritable cases (60–70%) result from somatic RB1 mutations or, rarely, MYCN amplification (2%). Genetic testing is critical to classify risk (H0, H1, and HX categories), guide surveillance, and inform family counseling. Bilateral cases almost always harbor germline mutations, while 15% of unilateral cases may carry germline/mosaic RB1 defects. Advanced techniques (Sanger/NGS sequencing for mutation detection, NGS for copy number alterations, and methylation assays) detect RB1 mutations, CNVs, and epigenetic silencing. Tumor DNA analysis resolves ambiguous cases. H1 patients require intensive ocular and brain MRI surveillance, while H0 cases need no follow-up. Prenatal/preimplantation genetic diagnosis (PGD) can prevent transmission in high-risk families. Emerging research explores additional genes (BCOR, CREBBP) and MYCN-amplified subtypes. Genetic counseling addresses recurrence risks, reproductive options, and long-term cancer monitoring. Integrating genetic insights into clinical practice enhances precision medicine, reducing morbidity and healthcare costs. Future directions include whole-genome sequencing and functional studies to refine therapeutic strategies. Full article

Purpose: To evaluate color discrimination in schoolchildren with low birth weight (LBW) and those born full-term and at a weight appropriate for gestational age (AGA). Methods: LBW children aged 5–11 years and school-, grade-, sex-, and age-matched full-term (birth weight ≥ 2500 g) AGA controls from 14 randomly selected schools from a low-income region were tested. Examinations included visual acuity, ocular motility, and color vision testing using the Farnsworth D-15 test. Color score and interocular color score difference (ICD) were compared between the groups. Multiple logistic regression was used to analyze associations between color vision deficit and group, adjusting for age, sex, visual acuity, strabismus, and amblyopia. Results: A total of 291 LBW children (age = 8.5 ± 1.3 yrs; 55.7% females) and 265 AGA children (age = 8.5 ± 1.4 yrs; 56.2% females) were examined. Dyschromatopsia was detected in 10.3% of LBW and 7.9% of AGA children, primarily involving tritan and non-specific defects. Color scores were comparable between the groups, and color deficit was significantly associated with younger age and worse visual acuity. The ICD was statistically larger (p = 0.004) in the LBW group, in which the frequencies of strabismus and amblyopia were also higher. Conclusions: Most LBW children demonstrated normal color discrimination, but their interocular color score difference was larger than that of AGA children. Full article

Introduction: Intermittent exotropia (IXT) is the most common form of childhood divergent strabismus. Surgery remains the primary approach to control ocular deviation and preserve binocular function. Although previous studies report a success rate of approximately 75%, factors influencing surgical outcomes remain insufficiently explored. This study evaluates the effectiveness of strabismus surgery in children with IXT and identifies predictors of postoperative alignment stability. Methods: This retrospective study included 258 children with basic-type IXT or divergence excess who underwent bilateral lateral rectus recession. Clinical records and surgical data were analyzed to determine the overall success rate and identify associated predictive factors. Results: The sample included 166 females (64.3%) and 92 males (35.7%), with a mean age of 11.19 ± 3.73 years. Surgical success was achieved in 238 patients (92.2%). Success rates were similar across sexes (92.8% in females vs. 91.3% in males). No significant associations were found between surgical success and sex, age, preoperative occlusion therapy, binocular function, or IXT subtype. However, patients with moderate preoperative deviations had higher success rates. A statistically significant difference was observed in the preoperative deviation angle between successful (31 ± 7.08∆) and unsuccessful (42 ± 7.27∆) cases. A lower AC/A ratio was also associated with better outcomes, although it was not the main predictor. Discussion: The high success rate (92.2%) suggests a limited impact of demographic or preoperative variables. The preoperative deviation angle emerged as the strongest predictor of success, with smaller angles correlating with more favorable surgical outcomes. These findings underscore the importance of accurate preoperative assessment in surgical planning for IXT. Full article

Introduction: Acute Myeloid Leukemia (AML) is a hematologic malignancy characterized by the clonal expansion of myeloid progenitors. While it primarily affects the bone marrow, extramedullary relapse occurs in 3–5% of cases, and it is linked to poor prognosis. Central nervous system (CNS) involvement presents diagnostic challenges due to nonspecific symptoms. CNS manifestations include leptomeningeal dissemination, nerve infiltration, parenchymal lesions, and myeloid sarcoma, occurring at any disease stage and frequently asymptomatic. Methods: A 62-year-old man with a recent history of AML in remission presented with diplopia and aching paresthesias in the left periorbital region spreading to the left frontal area. The diagnostic workup included neurological and hematological evaluation, lumbar puncture, brain CT, brain magnetic resonance imaging (MRI) with contrast, and dermatological evaluation with skin biopsy due to the appearance of nodular skin lesions on the abdomen and thorax. Results: Neurological evaluation showed hypoesthesia in the left mandibular region, consistent with left trigeminal nerve involvement, extending to the periorbital and frontal areas, and impaired adduction of the left eye with divergent strabismus in the primary position due to left oculomotor nerve palsy. Brain MRI showed an equivocal thickening of the left oculomotor nerve without enhancement. Cerebrospinal fluid (CSF) analysis initially showed elevated protein (47 mg/dL) with negative cytology; a repeat lumbar puncture one week later detected leukemic cells. Skin biopsy revealed cutaneous AML localization. A diagnosis of AML relapse with CNS and cutaneous localization was made. Salvage therapy with FLAG-IDA-VEN (fludarabine, cytarabine, idarubicin, venetoclax) and intrathecal methotrexate, cytarabine, and dexamethasone was started. Subsequent lumbar punctures were negative for leukemic cells. Due to high-risk status and extramedullary disease, the patient underwent allogeneic hematopoietic stem cell transplantation. Post-transplant aplasia was complicated by septic shock; the patient succumbed to an invasive fungal infection. Conclusions: This case illustrates the diagnostic complexity and poor prognosis of extramedullary AML relapse involving the CNS. Early recognition of neurological signs, including cranial nerve dysfunction, is crucial for timely diagnosis and management. Although initial investigations were negative, further analyses—including repeated CSF examinations and skin biopsy—led to the identification of leukemic involvement. Although neuroleukemiosis cannot be confirmed without nerve biopsy, the combination of clinical presentation, neuroimaging, and CSF data strongly supports the diagnosis of extramedullary relapse of AML. Multidisciplinary evaluation remains essential for detecting extramedullary relapse. Despite treatment achieving CSF clearance, the prognosis remains unfavorable, underscoring the need for vigilant clinical suspicion in hematologic patients presenting with neurological symptoms. Full article

Purpose: This retrospective study aimed to compare the efficacy of cycloplegic (CR) versus non-cycloplegic refraction (NCR) methods in detecting refractive errors among children and adolescents. Methods: Electronic data from pediatric ophthalmology clinics at the University Hospital “Sveti Duh”; Zagreb, Croatia, from January 2008 to July 2023, were analyzed. Comprehensive eye examinations, including Logarithmic Visual Acuity tests, subjective refraction, cycloplegic retinoscopy, slit lamp, and fundus examinations, were conducted. Results: The dataset included 1075 individuals, with 180 undergoing NCR and 895 undergoing CR. In premyopes, the NCR group had a longer follow-up (5.04 vs. 3.45 years; p < 0.001) with similar SE progression. In low myopia, NCR showed more negative first visit SE (−1.86 D vs. −1.35 D; p < 0.001) and faster progression (p = 0.01). In high myopia, follow-up was longer in NCR (5.08 vs. 2.08 years; p = 0.03) with no other significant differences. SE progression was highest in 4–6-year-olds and significantly faster in NCR (−0.61 vs. −0.40 D/year; p = 0.05). Conclusions: Cycloplegic refraction is essential for accurately assessing refractive status, especially in cases of low myopia, as it prevents misclassification and ensures precise evaluation in children and adolescents, thereby facilitating the appropriate diagnosis and treatment of refractive errors. Full article