Search Results (85)

Background/Objectives: Myopia is a growing global problem. Current preventative treatments are inadequate, and myopia control spectacles intentionally degrade peripheral optical quality over large retinal areas. Variable results have been related to near-peripheral retinal refractive variability and chromatic refractive spread. A narrow paracentral band of collimating apertures created by annuli with plus-add surrounding appropriately small distance-correcting areas is proposed to decrease defocus and dynamic accommodation cues at the most responsive retinal area for controlling axial elongation while optimizing peripheral vision. Methods: Axial lengths (AL), with the contralateral myopic eye serving as the control, were measured in a child with masking after distance and near viewing with a stick-on placed coaxially on a single-vision (SV) spectacle lens during the AL diurnal cycle’s ascending phase only during the experimental sessions at myopia onset and two years later in a case study. The stick-on consisted of a 3.5 mm-wide annular +3D lens containing collimating apertures created by surrounding 1.5 mm-wide circular openings within the stick-on with plus power over the SV minus lens. Results: There was no elongation during near viewing in the child’s eye with the stick-on, while the contralateral control eye without the stick-on elongated. The expected increase in elongation during distance viewing during the child’s AL diurnal cycle’s ascending phase was reduced at age 8 and again at age 10 in the eye with the stick-on compared to the eye without the stick-on. Adaptation was immediate. Central and peripheral visual acuities were no different with or without the stick-on. Conclusions: This proof-of-concept study in a single child at myopia onset and two years later during myopia progression suggests the potential of this novel strategy for reducing short-term axial elongation during distance and near viewing. Stick-ons, clip-ons, electronic and non-electronic spectacles and contact lenses combining near-peripheral collimation with near-peripheral myopic defocus treatment at the narrow near-peripheral retinal area should be further explored for controlling myopia without reduction of peripheral vision. Full article

Background/Objectives: To date, approximately 360 pathogenic variants of the OCRL gene have been reported, including frameshift, substitution, gross inversion, nonsense, and missense mutations. These genetic alterations have been associated with a broad phenotypic spectrum of Lowe syndrome, contributing to considerable variability in disease severity and clinical presentation. Missense variants are typically associated with preserved messenger RNA expression in fibroblasts, whereas more deleterious mutations result in markedly reduced expression of the OCRL transcript or protein product. Pathogenic variants in the OCRL gene have also been identified in patients with Dent’s disease type 2. Case presentation: This case report describes a pediatric male patient with autism spectrum disorder and renal dysfunction, who was found to harbor a variant of uncertain clinical significance in the OCRL gene and a pathogenic 16p11.2 chromosomal deletion. The patient, a 12-year-old boy with autism, presented with proteinuria during hospitalization for febrile gastroenteritis and streptococcal infection. Further evaluation revealed focal glomerulosclerosis, tubular calcium phosphate deposits, albuminuria, and hypercalciuria. Ophthalmologic examination additionally demonstrated bilateral lens opacities in the absence of congenital cataracts, as well as hyperopia. The coexistence of these clinical manifestations together with the identified OCRL gene variant raises the possibility of an atypical presentation of Dent disease type 2. Nevertheless, continued clinical and genetic follow-up remains warranted to further clarify the pathogenic significance of the detected variant and to establish a definitive diagnosis. Conclusions: The uniqueness of this case resides in the coexistence of two independent genetic findings presenting a phenotype-attribution challenge. Furthermore, the identified phenotype may warrant consideration as a possible previously unreported phenotypic presentation situated along the clinical spectrum between Lowe syndrome and Dent disease type 2. The main contribution of this report is to illustrate the interpretative challenges of a concurrent pathogenic 16p11.2 deletion and an OCRL variant of uncertain significance in a patient with renal disease and neurodevelopmental features. Full article

Using the finite element analysis software ANSYS (version 2020), we investigated the variation trends in the resonant frequencies of the eyeball, as well as the stress and strain distributions in the optic nerve under different intraocular pressures. To better understand the mechanical and physical characteristics of the eyeball, the reliability and accuracy of ophthalmic research were enhanced. A total of six 3D eyeball models were constructed using SolidWorks (version 2023), including one porcine eyeball model and five human eyeball models with axial lengths of 22, 24, 26, 28, and 30 mm. These axial lengths correspond respectively to hyperopia, emmetropia, and myopia of approximately −6.00, −12.00, and −18.00 diopter, representing different refractive states of the human eye. The models were imported into ANSYS, where the Harmonic Response and Modal Analysis modules were applied to determine the resonant and natural frequencies, and to analyze their trends with respect to axial length variation. The simulation results revealed that, in the modal analysis, the natural frequency decreased with increasing axial length, indicating that longer eyes (more myopic) are more susceptible to lower-frequency vibrations. Despite the frequency differences, the mode shapes under identical modal orders remained highly similar across all models, demonstrating consistent vibrational behavior among eyes of different axial lengths. These findings contribute valuable biomechanical insights into the vibrational characteristics of the eyeball and provide theoretical support for future ophthalmological and biomedical engineering applications, including ocular diagnostics and protective device design. Full article

Background/Objective: Myopia has become a prominent public health issue in China, significantly impacting the visual health of children and adolescents. The condition is characterized by a high incidence rate, increasing prevalence, and a trend toward earlier onset, highlighting the critical need for early and accurate diagnosis. Current clinical diagnostic methods primarily depend on subjective evaluations by optometrists and the use of isolated parameters, leading to inefficiencies and inconsistent outcomes. Moreover, there remains a lack of diagnostic tools that can effectively integrate multi-parameter analysis while ensuring robust data privacy protection. This study aims to develop an artificial intelligence (AI) diagnostic model that achieves objective, accurate, and safe diagnosis of myopia in children without cycloplegia through multi-parameter fusion and to enable local deployment. The proposed model is intended to be a reliable tool for clinical applications and large-scale screening projects, while ensuring strong protection of patient privacy. Methods: We built a transparent, rule-driven AI framework using clinical guidelines. Key ocular parameters—visual acuity, spherical equivalent, axial length, corneal curvature, and axial ratio—were encoded as logical rules in Python and incorporated via instruction fine-tuning. The model was trained and validated on retrospective clinical data (70% training, 15% validation, 15% test) using five algorithms: gradient boosting, logistic regression, random forest, SVM, and XGBoost. Performance was evaluated using accuracy, precision, recall, F1 score, and mean AUC across classes. Results: The model classifies refractive status into five categories: hyperopia, pre-myopia, mild, moderate, and high myopia. All five different algorithms demonstrated excellent diagnostic and classification performance. Gradient boosting achieved the best overall performance, with an accuracy of 98.67%, an F1 score of 98.67%, and a mean AUC of 0.957—outperforming all other models. Conclusions: This study successfully developed an artificial intelligence-based myopia diagnosis system for children under non-dilated pupil conditions. The system is interpretable and privacy-preserving, and has excellent diagnostic and classification performance, making it suitable for clinical decision support and large-scale screening applications. It has great potential to promote the development of early intervention, precision prevention, and control strategies for childhood myopia. Full article

Background/Objectives: This study aimed to evaluate macular choroidal blood flow dynamics and structural alterations in children with hyperopic anisometropic amblyopia and compare these findings with those of the fellow eyes. Methods: This retrospective observational study included 36 eyes from 18 children (mean age: 4.9 years) with unilateral hyperopic anisometropic amblyopia. Central choroidal thickness (CCT) was measured using enhanced depth imaging optical coherence tomography. Macular choroidal hemodynamics were assessed using laser speckle flowgraphy. Mean blur rate (MBR) was used as an index of blood flow, whereas beat strength (BS) was used as a measure of pulsatility. Ocular perfusion pressure (OPP) was also calculated. All parameters were compared between amblyopic and fellow eyes. Results: Amblyopic eyes demonstrated significantly greater CCT compared with fellow eyes (407.6 ± 84.9 µm vs. 326.4 ± 79.1 µm). Conversely, macular MBR was significantly lower in amblyopic eyes (9.28 ± 3.60 AU vs. 10.94 ± 4.68 AU), as was BS (5.73 ± 3.07 AU vs. 7.28 ± 3.59 AU). No significant differences were observed in central retinal thickness or OPP between amblyopic and fellow eyes. In amblyopic eyes, CCT was not significantly correlated with macular MBR or BS. Conclusions: Amblyopic eyes exhibited significant central choroidal thickening accompanied by reduced macular blood flow and pulsatility. These findings suggest that localized macular hemodynamic dysregulation may contribute to the pathophysiology of hyperopic anisometropic amblyopia. Full article

Background and Clinical Significance: Tramadol-associated acute angle-closure crisis is rare and has been reported only once previously following subcutaneous administration. Acute angle closure may occur in anatomically predisposed individuals in the setting of perioperative physiological stress, with medications acting as contributory factors. Case Presentation: A 38-year-old woman developed a bilateral acute angle-closure crisis shortly after initiating oral tramadol for postoperative pain relief following an uncomplicated robotic-assisted laparoscopic hysterectomy. Within 24 h, she experienced headache, nausea, vomiting, periocular pain, and blurred vision. Ophthalmic examination revealed markedly elevated intraocular pressure (45 mmHg OD, 39 mmHg OS), corneal epithelial edema, mid-dilated pupils, and completely closed angles on gonioscopy. Prompt intraocular pressure–lowering therapy followed by bilateral Nd:YAG laser peripheral iridotomy resulted in full anatomical and functional recovery, with visual acuity returning to baseline within 48 h. Conclusions: In this case, extreme anatomical susceptibility due to significant hyperopia and very short axial lengths likely played a dominant role, with perioperative physiological factors contributing to pupillary dilation. Oral tramadol may have acted as a permissive factor lowering the threshold for angle closure rather than as a sole causative agent. Awareness of this potential association is important to facilitate early ophthalmic referral and prevent unnecessary diagnostic evaluations. Full article

Background: Refractive errors (REs) and amblyopia are the leading causes of visual impairment (VI) in children worldwide; however, national data for Mexico are scarce. Objective: We aim to estimate the clinical prevalence of RE, refractive amblyopia, and associated visual impairment (VI) in Mexican children aged 6–12 years. Methods: We analyzed 784,372 non-cycloplegic eye examinations from Salud Digna outpatient clinics across all 32 Mexican states (2021–2025). REs were classified as myopia (≤−0.50 D), hyperopia (≥+2.00 D), or astigmatism (≤ −1.00 D cylinder). Refractive amblyopia was defined as best-corrected visual acuity ≤ 20/30 in the most affected eye. The VI categories followed the WHO criteria. Results: Myopia was the most frequent (43.86%), followed by astigmatism (38.41%) and hyperopia (1.29%). Refractive amblyopia affected 4.94% of the children, predominantly due to astigmatic isoametropia (72.19%). VI related to refractive amblyopia occurred in 1.20% (mild), 0.37% (moderate), 0.01% (severe), and 0.01% (blindness) of children. Men showed a higher prevalence of RE and refractive amblyopia (p < 0.01). Geographic disparities were evident, with the central and southern states reporting the highest RA rates. Conclusions: Our outpatient-based study underscores REs, refractive amblyopia, and astigmatic ametropia as significant public health concerns in Mexican school-aged children. The high prevalence of uncorrected REs and refractive amblyopia highlights the need for nationwide school-based screening programs and early intervention strategies to mitigate long-term visual and developmental consequences. Full article

Background: Refractive errors are a common ophthalmological complaint, with a significant potential on the quality of life of our patients—myopia in particular has a growing incidence worldwide. Recent research focused on the ratio between the axial length of the eye (AL) and the corneal radius of curvature (CR), as it had proven valuable in refractive error diagnosis, and risk of progression and of complications. The objective of the study is to compare young emmetropic, hyperopic, and myopic eyes in terms of corneal biomechanics and ocular biometry, focusing on the AL/CR ratio. Methods: This cross-sectional study included 144 myopic eyes, 92 emmetropic eyes, and 47 hyperopic eyes. Measurements included cycloplegic autorefractometry (SE—spherical equivalent), Ocular Response Analyzer (CH—corneal hysteresis, CRF—corneal resistance factor), Aladdin biometry (AL, CR, ACD—anterior chamber depth, CCT—central corneal thickness, AL/CR ratio). Results: ACD, AL, and AL/CR were significantly higher and CCT, SE, CH, and CRF were lower in myopia. The AL/CR ratio correlated positively with AL and ACD and negatively with SE and CR in myopes and hyperopes, and correlated positively with AL and negatively with SE, CH, CRF, and CCT in emmetropes. Conclusions: The AL/CR ratio is significantly higher in myopes and significantly lower in hyperopes, compared to emmetropes, with differences also being in biomechanical properties (CH, CRF) and morphological ones (AL, CCT, ACD). This suggests the AL/CR ratio as a future potential biomarker for refractive errors, particularly for their risk of progression and complications. Full article

This study evaluates the ability of the QuickSee Free (QSF) portable autorefractor (PlenOptika) to detect and measure refractive error compared to subjective clinical refractometry (SCR) in a Brazilian adult population in a low-resource setting in Amazonas. A total of 100 participants aged 18–65 years underwent visual acuity screening and autorefraction with and without cycloplegia using the QSF, alongside a complete ophthalmic examination including SCR. Refractive error measurements included spherical component (SC), cylindrical component (CC), cylindrical axis (CA), spherical equivalent (SE), and vector powers (MV90 and MV135). Accuracy was assessed for hyperopia ≥ +2.00 D, myopia ≤ −0.75 D, astigmatism ≥ 1.00 DC, and anisometropia ≥ 1.00 D using receiver operating characteristic (ROC) curve analysis. The area under the curve for detecting significant refractive errors ranged from 0.538 to 0.930. The mean difference between QSF without cycloplegia and SCR was −1.08 ± 1.17 D for SC and −1.15 ± 1.15 D for SE (p < 0.0001), and with cycloplegia, it was −0.81 ± 1.07 D and −0.83 ± 1.02 D, respectively. The QSF exhibited a moderate negative bias for both SC and SE with and without cycloplegia, underestimating these values, but it showed good predictability for detecting refractive errors in a low-resource setting. Full article

Intraocular lens (IOL) implantation is currently the most effective method for restoring vision following cataract surgery and is also used in cases of high myopia or hyperopia. However, IOL implantation eliminates accommodation, forcing patients to choose between corrected distance vision, requiring reading glasses for near tasks, or near vision supplemented by distance correction with spectacles. This limitation underscores the need for fully customized, patient-specific IOLs. To address this challenge, we performed femtosecond laser ablation experiments on polymethyl methacrylate (PMMA) IOLs using 200 fs pulses at 513 nm to investigate controlled surface modification. Laser-induced surface structuring offers a pathway to inscribe micron-scale patterns, including apodized features, in transparent polymers. To our knowledge, this is the first demonstration of femtosecond laser irradiation at 513 nm applied to IOL surfaces. Furthermore, this study is the first to combine scanning electron microscopy (SEM) and optical coherence tomography (OCT) as detection technologies to analyze and quantify ablation morphology and depth. The formation of smooth craters with minimal surrounding thermal damage highlights the potential of femtosecond laser processing as a promising tool for the development of customized, patient-tailored intraocular lenses. Full article

Bacground/Objectives: This study aimed to develop age- and sex-specific spherical equivalent (SE) percentile curves and estimate the prevalence of refractive errors (REs) in Portuguese schoolchildren aged 6–17 years. Methods: A cross-sectional study was conducted in three schools in Lisbon, including 2205 children (mean age = 9.3 ± 2.6 years; 49.3% boys). Vision was assessed using non-cycloplegic static retinoscopy (chosen due to feasibility in school settings) and visual acuity tests. SE percentile curves (P5–P95) were generated by age and sex. SE values and RE distribution (hyperopia, emmetropia, and myopia) were compared across four age groups (6–8, 9–11, 12–14, and 15–17 years). Results: SE values decreased significantly with age (p < 0.001). Median SE ranged from +0.50 D (6–8 years) to 0.00 D (15–17 years), with no sex differences. Hyperopia predominated in younger children (60.6% at 6–8 years), whereas myopia increased in older ages (32.2% at 15–17 years). Conclusions: This study presents the first SE percentile curves for Portuguese schoolchildren, providing a practical, age-specific reference for vision screening. The progressive shift from hyperopia to myopia highlights the importance of early detection and monitoring to prevent visual impairment. Full article

Background and Objectives: To analyze changes in risk factors for refractive errors among Korean adolescents before and after the COVID-19 pandemic and examine the impact of lifestyle modifications on myopia development, Methods: this cross-sectional study utilized nationally representative data from the Korea National Health and Nutrition Examination Survey (KNHANES) VII (2016) and VIII (2021). We analyzed 691 adolescents aged 10–18 years from 2016 (pre-COVID-19) and 490 from 2021 (post-COVID-19). Refractive errors were categorized as hyperopia (≥+0.50 D), emmetropia (−0.50 to +0.50 D), myopia (−6.00 to −0.50 D), and high myopia (≤−6.00 D). Complex sample linear regression analyses identified factors associated with spherical equivalent (SE) refractive errors. Results: At the population level, overall myopia prevalence declined from 84.2% in 2016 to 77.4% in 2021, whereas the prevalence of high myopia increased from 10.0% to 11.5% (p = 0.047). This indicates that although the absolute proportion of adolescents with myopia decreased, the relative contribution of high myopia to the overall myopia burden within this population increased. Mean SE was −2.77 ± 0.11 D in (−10.63~+3.00 D/median: −2.00 D) 2016 and −2.63 ± 0.13 D (−14.00~+1.63/median: −1.75 D) in 2021 (p = 0.443). Age-related myopia progression accelerated post-pandemic (−0.193 D to −0.324 D per year in univariate regression and −0.185 D to −0.312 D, in multivariate regression analysis, p < 0.001). In both the 3 h and ≥4 h near work groups, statistically significant associations were observed at both time points, but a greater myopic shift was evident after COVID-19 (B = –0.853 and –0.757 in 2016; B = –1.311 and –1.167 in 2021, p < 0.05). Conclusions: The COVID-19 pandemic altered myopia risk factors among Korean adolescents. High myopia prevalence increased despite overall myopia with underweight status and environmental factors such as digital device time and urban living identified as important considerations for post-pandemic myopia prevention. Full article

Introduction: Noggin encoding (NOG) gene plays a critical role in early embryogenesis and development of bones, joints, cartilage, eyes, and neural tissue. The NOG gene encodes the noggin protein. Noggin is the only secreted inhibitor of bone morphogenetic protein (BMP) that is associated with abnormal phenotypes in humans. The most commonly observed manifestations of NOG gene mutations include bilateral conductive hearing loss, proximal symphalangism, broad thumbs, hyperopia, and a distinct facial appearance. This genetic disorder was first reported in 1990 by Teunissen and Cremers. Since then, various phenotypic presentations of NOG mutation have been reported, leading to the introduction of the term NOG-related symphalangism spectrum disorder (NOG-SSD). Case report: In this report, we describe a family (mother and daughter) with bilateral mixed hearing loss. Both patients had hyperopia, distinct facial appearance with hemicylindrical nose, broad thumbs, and syndactyly of the second and third toes. Genetic testing confirmed a NOG gene mutation. Bilateral stapedotomy was successfully performed, resulting in significant hearing improvement. However, due to sensorineural component of hearing loss, complete hearing recovery was only achieved with the use of hearing aids. Discussion: The etiology of the sensorineural component of hearing loss in NOG-SSD remains unclear. In animal models, the NOG gene is essential for inner ear development, while in humans, only middle ear malformations have been reported. The phenotypic variability observed in individuals with NOG mutations is very wide, suggesting that the sensorineural component of hearing loss could represent one of the possible manifestations. Conclusions: Conductive hearing loss is the primary manifestation of the NOG-SSD, and all previously reported cases of NOG gene mutations have presented exclusively with conductive hearing loss. It is possible that additional genetic factors, not necessarily directly related to the NOG gene but present in this family, contribute to the development of the sensorineural component of hearing loss, although thorough genetic testing did not reveal any additional mutation. This is, to our knowledge, the first report of mixed hearing loss associated with a NOG mutation confirmed preoperatively. Further studies are needed to determine whether the sensorineural component represents a primary manifestation or arises from secondary mechanisms. 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: 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