Comprehensive Ocular Examination Research Articles

The PRAMOS Study: PRostaglandin Analogues Monotherapy-Awareness Survey on Ocular Surface Involvement.

Even though the local tolerance of prostaglandin (PG) analogues has improved drastically since the introduction of preservative-free (PF) eye drops, prescription patterns still vary widely among practitioners and between countries and could have an impact on the ocular surface of treated patients and, in consequence, their adherence. The aim of this study is to explore the prescribing patterns of PG analogues monotherapy in France and to evaluate their impact on ocular surface status. This was a national multicenter cross-sectional observational study that was conducted by 18 glaucoma experts in France. Patients over 18years of age and receiving monotherapy with topical PG analogues for the treatment of ocular hypertension and/or glaucoma, with no history of prior glaucoma surgery, were consecutively selected from the glaucoma outpatient clinics of participating physicians and underwent an ocular surface examination. A total of 344 eyes of 344 patients were enrolled between November 2022 and November 2023. Prescribed PG monotherapy was PF in 271 (78.7%) patients. Clinical history and ocular surface evaluation indicated that 79.4% of the study population (n = 273) presented with at least one symptom or clinical sign of dry eye and that three patients out of four had an unstable tear film. Subgroup analysis comparing preserved and PF PG analogues showed a higher prevalence of conjunctival hyperemia and corneal staining in the preserved group. Multivariate analysis identified conjunctival hyperemia as consistently associated with preservative use (odds ratio = 7.654; p = 0.003 for moderate conjunctival hyperemia). This study highlights the growing trend toward PF PG analogue prescriptions by specialists in France. However, ocular surface issues remain prevalent, impacting patient adherence and treatment efficacy. Comprehensive ocular surface examinations are crucial in glaucoma management to enhance long-term tolerance, compliance, and overall treatment success.

Strabismus Measurements Using the Alternating and Simultaneous Prism Cover Tests

Purpose: Tocomparetheangleofdeviationbyperformingsimultaneousprismcover test (SPCT) and alternate prism cover test (APCT) at near (33cm) and far (6m). Study Design: Cross-sectional observational. Place and Duration of Study: Al-Ibrahim Eye Hospital, Karachi from July 2021 to December 2021. Methods: This study enrolled 32 participants diagnosed with constant esotropia, aged between 5 and 25 years, comprising 14 males and 18 females. Comprehensive ocular examinations for strabismus were performed, including simultaneous prism cover tests at both distance and near fixation, conducted with and without corrective glasses. Subsequently, an alternate prism cover test was administered at each fixation point, again both with and without glasses. Binocular single vision was evaluated using the Worth Four Dot test and the 10Δ test. Statistical analysis was conducted using SPSS version 20.0. Results: At distance fixation, the mean deviation angle measured by the simultaneous and alternate prism cover tests exhibited a significant difference of 9.78Δ (p=<.001). Similarly, at near fixation, the mean deviation angle between the simultaneous and alternate prism cover tests showed a significant difference of 10Δ (p=<.001). Conclusion: This study demonstrates a notable and statistically significant variance in the measured angle of deviation when employing different testing methodologies (SPCT and APCT).

Exome sequencing and genome-wide association analyses unveils the genetic predisposition in hydroxychloroquine retinopathy.

To unveil the candidate susceptibility genes in chloroquine/hydroxychloroquine (CQ/HCQ) retinopathy using whole exome sequencing (WES) and genome-wide association study (GWAS). Patients with a diagnosis of CQ/HCQ retinopathy based on the comprehensive demographic and ocular examination were included. The peripheral blood was extracted for WES and GWAS analyses. The Chinese Han Southern database from 1000 genomes was used as control group to compare the affected percentage. Multivariate logistic regression analysis adjusted for age, HCQ dose, duration and renal disease were used to analyze the correlation between genetic variants and visual outcome. A poor vision outcome was defined as visual acuity <6/12. An abnormal anatomical outcome was defined as disruption of ellipsoid zone in the fovea. Twenty-nine patients with an average age of 60.9 ± 13.4 years, treatment duration of 12.1 ± 6.2 years, daily dose of 8.5 ± 4.1 mg/kg, and the cumulative dose of 1637.5 ± 772.5 g, were genotyped. Several candidate genes associated with CQ/HCQ retinopathy were found, including RP1L1, RPGR and RPE65, with a difference of affected percentage over 50% in mutation between the case and control groups. New foci in CCDC66: rs56616026 (OR = 63.43, p = 1.63 × 10-8) and rs56616023 (OR = 104.7, p = 5.02 × 10-10) were identified significantly associated with HCQ retinopathy. Multivariate analysis revealed increased genetic variants were significantly associated with poor functional (OR = 1.600, p = 0.004) and structural outcome (OR = 1.318, p = 0.043). Several candidate susceptibility genes including RP1L1, RPGR, RPE65 and CCDC66 were identified to be associated with CQ/HCQ retinopathy. In addition to disease susceptibility, patients with increased genetic variants are more vulnerable to poor visual outcomes.

Prevalence and causes of blindness and distance visual impairment in Chinese adult population in 2022 during the COVID-19 pandemic: a cross-sectional study

This cross-sectional study aims to investigate the prevalence and causes of visual impairment (VI) and blindness in Jiangsu Province, China in 2022 during the COVID-19 pandemic. Participants (n = 13,208, aged 18–93) underwent comprehensive ocular examinations. The prevalence and causes of binocular VI (presenting visual acuity [VA] ≥ 20/400 and < 20/63 in the better eye) and blindness (presenting VA < 20/400 in the better eye) were assessed according to the World Health Organization (WHO) criteria. The estimation of refractive error prevalence was conducted using the following classification: myopia ≤ − 0.50 diopters (D), high myopia ≤ − 6.00 D, hyperopia ≥ 0.50 D, and anisometropia ≥ 1.00 D. The overall prevalence of binocular VI and blindness was 21.04% (95% confidence interval [CI] 20.35–21.74%) and 0.47% (95% CI 0.37–0.60%). The highest prevalence of binocular VI was in the population aged 18–24 years old (46.29%, [95% CI 44.30–48.28%]), those with education at university and above (43.47%, [95% CI 41.93–45.02%]), students (54.96%, [95% CI 52.73–57.17%]). Uncorrected refractive error (URE) was the leading cause of presenting binocular VI (93.40%) and blindness (50.79%). The prevalence of myopia was 54.75% (95% CI 53.90–55.60%). Actions are needed to control URE and myopia within the adult Chinese population, with a particular emphasis on the younger, well-educated demographic.

THE RELATIONSHIP OF PUPIL SIZE WITH REFRACTIVE EROR IN METABOLIC SYNDROME AND NON-METABOLIC SYNDROME: POPULATION AMONG RURAL POPULATION IN MALANG

Purpose: This study aims to assess the relationships between pupil size and refractive errors in both metabolic syndrome and non-metabolic syndrome populations residing in rural areas of Malang.&#x0D; Methods: A descriptive study was carried out in 2019 across three villages in Malang districts. All attending participants underwent a comprehensive ocular examination, including pupil size assessment. Pupil abnormalities were defined as deviations from the normal diameter of 2-4 mm in bright light. Clinically relevant refractive errors included hyperopia (SphEq value ? 0.25 D), myopia (SphEq value ? -0.25 D), and astigmatism (cylinder ? 0.25 D). Blood samples gauged serum fasting glucose, high-density lipoprotein cholesterol, and triglyceride levels. Waist circumference, systolic, and diastolic blood pressure were measured. Metabolic Syndrome diagnosis followed the 2006 International Diabetes Foundation criteria. Participants were categorized into metabolic syndrome and non-metabolic syndrome groups.&#x0D; Results: The examination involved 953 participants, encompassing 944 right eyes and 942 left eyes. For the right eye, 434 eyes showed emmetropia, 252 exhibited myopia, 141 had hyperopia, and 117 presented astigmatism. Pupillary abnormalities were linked to astigmatism, but lacked significance (p = 0.893). The left eye results indicated 444 eyes with emmetropia, 244 with myopia, 138 with hyperopia, and 116 with astigmatism. Correlation with pupillary abnormalities yielded a non-significant p-value of 0.864. Pupil size outcomes in metabolic syndrome (499 eyes) and non-metabolic syndrome (454 eyes) were not significant (p = 0.649).&#x0D; Conclusion: Refractive error does not correlate with pupil size in metabolic syndrome and nonmetabolic syndrome.

Evaluation of tear film in patients with AIDS without opportunistic ocular infections in the era of COVID-19: A case-control study.

The assessment of tear film and ocular surface conditions in patients with acquired immunodeficiency syndrome (AIDS) has been poorly studied thus far. We aim to assess tear film parameters, ocular surface characteristics, and dry eye disease (DED) symptoms of patients with AIDS who did not undergo highly active antiretroviral treatment (HAART). This case-control study included 154 age-, sex-, and ethnicity-matched healthy controls and patients with AIDS. All participants underwent comprehensive ocular surface assessment and subjective DED symptomology evaluation. Data were collected between March 2022 and July 2022. HAART-naïve patients with AIDS had a shorter noninvasive tear film breakup time (median 3.76 vs. 8.54 s), thinner tear film lipid layer thickness (median 73.00 vs. 91.00 nm), and lower Schirmer I test values (median 5.00 mm/5 min vs. 12.00 mm/5 min) (all P < 0.001). Moreover, higher corneal fluorescein staining scores (median 1.00 vs. 0.00) and higher upper, lower, and total meibomian gland grades were observed in AIDS patients (all P < 0.05). Negative correlations between the blood viral load and the Ocular Surface Disease Index score ( r = -3.50, P = 0.027) and the Schirmer I test score ( r = -0.374, P = 0.017) were detected in patients with AIDS. Altered tear film status was observed in individuals with HAART-naïve AIDS, even when there were no other ocular symptoms present. Therefore, patients with AIDS should be encouraged to undergo comprehensive ocular surface examinations to detect any subclinical tear film alterations occurring.

Prevalence of ocular morbidity among industrial workers of Eastern Nepal

Objectives: The study aimed to investigate the prevalence of ocular morbidity among industrial workers. Materials and Methods: A descriptive cross-sectional study was carried out in four industries of Koshi Province. The demographic information gathered encompassed details such as age and gender. Employment-related factors included the nature of work, years of experience, and the type of industry. Economic considerations, such as monthly pay scale and job responsibilities, were also explored. Educational background and awareness of ocular hazards in the workplace, along with knowledge about safety devices, constituted crucial components of the survey. Comprehensive ocular examinations, along with assessments for color vision, contrast sensitivity, and stereopsis, were carried out on-site in collaboration with the outreach team of Biratnagar Eye Hospital. A structured schedule was administered through face-to-face interviews and documented. Results: In the present study, A total of 359 industrial workers were screened; among them, 321 (89%) were male, and 38 (11%) were Female, with a mean age of 43.72 ± 10.18. The majority of them were from 40 to 49 years of age group 135 (37.6%). The overall prevalence of ocular morbidity among the workers was 289, (80.50%). The highest rate of ocular morbidity was seen in sugar industry 98, (89.9%) followed by the jute industry 85, (80.18%), the soap industry 59, (74.68%), and the dairy industry 47, (72.30%). Presbyopia 166, (46.23%) emerged as the most common ocular morbidity among all workers. A history of ocular injuries was found in 115, (32%) of workers, and only 19% of workers used ocular safety devices. The main reason for not using ocular safety devices was due to unavailability (65%). Conclusion: The research highlights a significant prevalence of ocular morbidity among industrial workers, with presbyopia emerging as the most common ocular disorder.

Diagnostic performance of wide-field optical coherence tomography angiography for high myopic glaucoma

Diagnosing and monitoring glaucoma in high myopic (HM) eyes are becoming very important; however, it is challenging to diagnose this condition. This study aimed to evaluate the diagnostic ability of wide-field optical coherence tomography angiography (WF-OCTA) maps for the detection of glaucomatous damage in eyes with HM and to compare the diagnostic ability of WF-OCTA maps with that of conventional imaging approaches, including swept-source optical coherence tomography (SS-OCT) wide-field maps. In this retrospective observational study, a total 62 HM-healthy eyes and 140 HM eyes with open-angle glaucoma were included. Patients underwent a comprehensive ocular examination, including SS-OCT wide-field and 12 × 12 WF-OCTA scans. The WF-OCTA map represents the peripapillary and macular superficial vascular density maps. Glaucoma specialists determined the presence of glaucomatous damage in HM eyes by reading the WF-OCTA map and comparing its sensitivity and specificity with those of conventional SS-OCT images. The sensitivity and specificity of 12 × 12 WF-OCTA scans for HM-glaucoma diagnosis were 87.28% and 86.94%, respectively, while, the sensitivity and specificity of SS-OCT wide-field maps for HM-glaucoma diagnosis were 87.49% and 80.51%, respectively. The specificity of the WF-OCTA map was significantly higher than that of the SS-OCT wide-field map (p < 0.05). The sensitivity of the WF-OCTA map was comparable with that of the SS-OCT wide-field map (p = 0.078). The WF-OCTA map showed good diagnostic ability for discriminating HM-glaucomatous eyes from HM-healthy eyes. As a complementary method to an alternative imaging modality, WF-OCTA mapping can be a useful tool for the detection of HM glaucoma.

Lens power, cornea power and association with refractive error in children with moderate to high hyperopia.

This study aimed to profile ocular biometry parameters and predictors of spherical equivalent refraction (SER) among children with moderate to high hyperopia. Individuals <18 years of age with moderate to high hyperopia were enrolled from November 2015 to November 2021. Participants underwent a series of comprehensive ocular examinations, and were classified as having low hyperopia, that is, SER +0.5 to < +2.0 D or moderate to high hyperopia, that is, SER ≥ +2.0 D. A total of 459 and 230 eyes with moderate to high hyperopia and low hyperopia, respectively, were included. Moderate to high hyperopic eyes had a shorter axial length, stronger lens power (24.78 ± 5.47 D vs. 18.74 ± 1.63 D, p < 0.001) and weaker corneal power (42.82 ± 1.75 D vs. 43.31 ± 1.55 D, p < 0.001) than low hyperopic eyes. When comparing values before and after 5 years of age, both lens power and axial length differed significantly in the moderate to high hyperopia group, whereas in the low hyperopia group, they only differed significantly after 9 years of age. Lens power was negatively associated with AL in eyes with axial lengths between 20 and 22 mm. A multiple linear regression model which included axial length (standardised β = -0.80, p < 0.001), corneal power (standardised β = -0.47, p < 0.001) and lens power (standardised β = 0.23, p < 0.001) explained 81.2% of the variance in SER. Differences in lens power and axial length in moderate to high hyperopic eyes became significantly smaller after 5 years of age, at least 4 years earlier than for the low hyperopia. Lens power could offset the axial elongation in participants with axial lengths between 20 and 22 mm, suggesting that children with moderate to high hyperopia might have different ocular growth patterns. Axial length, corneal power and lens power were the main predictors of SER in moderate to high hyperopia.

HIGH MYOPIA IS COMMON IN PATIENTS WITH X-LINKED RETINOPATHIES: Myopic Maculopathy Analysis.

High myopia can occur as a single or syndromic condition. The aim of this study was to evaluate the refractive error and myopic maculopathy in patients with X-linked retinopathies. Whole exome sequencing, Sanger sequencing, and comprehensive ocular examinations were performed in patients with X-linked retinopathies. A total of 17 patients were recruited, including six with CACNA1F, seven with RPGR, three with NYX, and one with OPN1MW mutations. The diagnoses were congenital stationary night blindness (6), cone-rod dystrophy (4), retinitis pigmentosa (4), achromatopsia (1), Leber congenital amaurosis (1), and myopia (1). Myopia was present in 88.2% patients, and 64.7% patients had high myopia. Gene analysis showed that high myopia was present in 80% patients with CACNA1F, 100% patients with NYX, and 57.1% patients with RPGR mutations. In the ATN classification, 64.7% of the patients were A1T0N0 and 35.3% were A0T0N0. The refractive errors progressed over time, even in patients with congenital stationary night blindness. Two females with heterozygous de novo RPGR mutations presented with retinitis pigmentosa or cone rod dystrophy combined with high myopia. High myopia is common in patients with X-linked retinopathies, and myopic maculopathy was only mild atrophy without traction and neovascularization.

Effect of correction of refractive error and threshold estimation in ocular headache patients in a tertiary eye care center

Purpose: Headache is one of the most common symptoms in patients with refractive error. Our study aimed to find the effect of refractive error correction and estimate the threshold of refractive error in patients with ocular headaches in a tertiary eye care center. Methods: We enrolled patients who came with complaints of headaches. It was a prospective, interventional study. All the patients underwent comprehensive ocular examination that included a detailed headache history, objective and subjective refraction, cycloplegic refraction, Humphrey visual fields test (30-2), cover test, and dilated fundus examination. We excluded uveitis, glaucoma, optic atrophy, papilledema, sinusitis, migraine, dental cavities, and neuropathy patients. We prescribed glasses after the post-mydriatic test. We surveyed via phone call regarding the compliance of spectacle wear and relief of headaches. Results: Out of the 98 enrolled patients, 67 were female and 31 were male in the age group of 16 to 35. The patients had simple astigmatism (57.14%), simple myopia (15.30%), simple myopic astigmatism (23.46%), and hyperopia (9.18%). The threshold value of dioptric power was −1.25 D, −1.00 D, −0.75 DS/−0.75 DC, and +1.00 D for simple astigmatism, simple myopia, simple myopic astigmatism, and hyperopia, respectively. 86.73% recovered with glasses. Simple astigmatism had the highest recovery rate. Headaches frequently occurred in the frontal (44.89%), followed by temporal (32.65%), parietal (16.32%), occipital, and parietal (11.22%). Conclusion: Lower degrees of refractive error caused the headache. We reported the threshold values of the refractive error that caused the ocular headache. Correcting the refractive error relieved the headache

Bilateral, Simultaneous Central Serous Chorioretinopathy in Association With Oral Contraception Use.

This report describes a case of bilateral, simultaneous central serous chorioretinopathy (CSCR) in a young woman on oral contraceptive pills (OCP). A 21-year-old woman with a negative past medical history presented with sudden onset of bilateral decreased vision shortly after starting OCP. Comprehensive ocular examination revealed bilateral central serous chorioretinopathy (CSCR), confirmed on retinal optical coherence tomography (OCT) and intravenous fluorescein angiography. The patient was instructed to discontinue OCP, and three weeks later, there was complete resolution of the visual symptoms and of the bilateral serous retinal detachments, documented on OCT. [Ophthalmic Surg Lasers Imaging Retina 2024;55:96-99.].

Association of WDR36 polymorphisms with primary open-angle glaucoma

Background: Various genes contribute to the pathophysiology of primary open-angle glaucoma (POAG). The WD repeat domain 36 (WDR36) gene may participate in T cell activation and, hence, in the pathogenesis of POAG. We investigated the association of two WDR36 gene single nucleotide polymorphisms (SNPs) with POAG.&#x0D; Methods: This cross-sectional study recruited patients aged &gt;40 years with POAG and investigated the rs10038177 and rs1971050 SNPs of WDR36 using polymerase chain reaction and direct DNA sequencing. All participants underwent comprehensive ocular examination, visual field assessment using the Swedish Interactive Threshold Algorithm standard 24-2 threshold test, and measurement of peripapillary retinal nerve fiber layer thickness (RNFLT) using spectral domain optical coherence tomography.&#x0D; Results: We enrolled 105 patients with a mean (standard deviation) age of 55.41 (8.56) years and a male-to-female ratio of 56 (53.3%) to 49 (46.7%), most of whom had a diagnosis of POAG for 2 to 5 years (60.0%). Most participants had diabetes (90.5%) but not hypertension (88.6%). There was a significant association of rs10038177 (P&lt;0.05), but not rs1971050 (P&gt;0.05), with family history of glaucoma. The association between rs10038177 and intraocular pressure was significant (P&lt;0.05), but that between rs1971050 and intraocular pressure was not (P&gt;0.05). No significant association was observed between mean cup-to-disc ratio and either SNP (both P&gt;0.05). For rs10038177, a significant association was found only with the RNFLT of the superior quadrant (P&lt;0.05), whereas for rs1971050, a significant association was found with the RNFLT of all four quadrants and average RNFLT (all P&lt;0.05). However, pairwise comparisons revealed no significant differences between genotypes (P&gt;0.05 for all pairwise comparisons). The association of rs10038177 with glaucoma severity was insignificant (P&gt;0.05), and most patients with the TC genotype (71.7%) had moderate severity. There was no significant association between rs1971050 and glaucoma severity (P&gt;0.05).&#x0D; Conclusions: We observed genetic links between some, but not all, characteristics of POAG and the rs10038177 and rs1971050 SNPs of WDR36. Follow-up studies on these and other WDR36 SNPs in populations with different genetic backgrounds are necessary to confirm this genetic association.

Does SARS-CoV-2 infection cause persistent ocular symptoms?: A cross-sectional study after the lifting of lockdown in Chongqing, China.

To confirm whether ocular symptoms and complaints related to the COVID-19 infection persist after recovery. A cross-sectional study was conducted on people who came to the healthcare center for regular physical examinations when the lockdown lifted for nearly 1 month. Ophthalmologists performed comprehensive ocular examinations. The infection history of COVID-19 was identified by a self-reported reverse transcription-PCR (RT-PCR) test of a nasopharyngeal swab sample for SARS-CoV-2 or a novel coronavirus antigen test with self-reported typical infection symptoms. Demographic data was collected from their healthcare reports. Ocular history and ocular symptoms were collected through face-to-face interviewing. Of a total of 308 participants, 264 (85.7%) reported COVID-19 infection; 73 (27.65%) of infected persons complained of various ocular symptoms during or after infection; and only 15 (5.68%) persons reported ocular symptoms after recovery. Infection significantly increased the complaints of red eye and eye pain compared to the time before knockdown. There were no significant differences between infections and noninfectious infections in various ocular examinations at the time of examination. The duration between the day of infection onset and examination day was unrelated to all ocular examinations. COVID-19 infection can lead to some ocular symptoms, especially conjunctival congestion and ocular pain in the infective stage, but may not cause persistent ocular symptoms in about 1 month after recovery. The results of this study may help relieve public concerns about coronavirus infection in the eyes. However, more studies on various coronavirus infections, with large sample sizes, are warranted in multi-center and community-based populations.

Evaluating surgical outcome of pterygium excision with conjunctival autograft using autologous blood: Can it be a new norm?

To evaluate the surgical outcome of use of autologous blood as an adhesive agent in pterygium excision with conjunctival auto-grafting. To observe the effectiveness of autologous blood adherence on the scleral bed and to know whether autologous blood technique can be made as a standard procedure in pterygium surgery or not.The present study is a retrospective observational study. The records of 94 cases of primary pterygium surgery done during August 2022- January 2023 were taken. All patients underwent comprehensive ocular examination pertinent to the disease. Pterygium was dissected and remaining subconjunctival pterygium tissue was separated and excised. The conjunctival limbal auto-graft was taken secured in place by autologous blood and dressing done. Follow-up was done on second post operative day,1st week and 1 month. The study displayed excellent surgical outcome with minimal post operative complications, which too resolved in a week. The most common complication was subconjunctival hemorrhage in 38 cases followed by graft edema in 32 cases. Though graft displacement was observed in 4 cases, they were later rearranged successfully. We did not observe even a single graft loss in our study.Pterygium excision with conjunctival auto-grafting with autologous blood is very safe, less time consuming, easy to perform with less learning curve, economical with excellent postoperative outcome and most importantly more patient satisfaction, thus, making it equivalent to or rather superior to other comparable procedures.

Common symptoms can uncover a rare tumor: A case report of pleomorphic xanthoastrocytoma

Transient visual disturbances (VD), such as flashing lights and scotomas, can occur in relatively benign ocular and neurologic diseases, such as migraine with aura. However, VD can also be a manifestation of visually threatening eye conditions and life-threatening neurologic conditions. The case of a 44-year-old woman is presented to highlight the importance of comprehensive ocular and neurologic examination in the diagnosis and management of patients with VD.

Association of GNB3, ACE polymorphisms with POAG and NTG

ABSTRACT Purpose Primary open-angle glaucoma (POAG) represents the most prevalent form of glaucoma and stands as a foremost contributor to irreversible vision impairment on a global scale. Despite notable strides made in comprehending the genetic underpinnings of POAG, investigations within the context of Russia remain constrained. Methods The study cohort comprised a total of 235 individuals, with 135 of them exhibiting various forms of glaucoma encompassing both POAG and (NTG, while the remaining 100 individuals served as control subjects. Each participant underwent a comprehensive ocular examination to ascertain their ocular health status. Genotyping of the relevant single nucleotide polymorphisms (SNPs) was carried out using the Taq Man genotyping assay. Specifically, the two SNPs under scrutiny were GNB3 rs5443 gene and ACE rs4646994. Statistical analysis was performed to evaluate the association of these SNPs with glaucoma risk. Results The presence of the T allele of rs5443 was found to be associated with NTG (p = .004). However, no statistically significant correlation was identified between this SNP and POAG (p = .88). Conclusion This study provides evidence of an association between the T allele of rs5443 and a reduced susceptibility NTG within the Russian population. These observations augment the comprehension of the genetic underpinnings of glaucoma and hold potential implications for the prospective development of targeted therapeutic interventions.

Expanded phenotypic spectrum of FOXL2 Variant c.672_701dup revealed by whole-exome sequencing in a rare blepharophimosis, ptosis, and epicanthus inversus syndrome family

IntroductionBlepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) is a rare genetic disease with diverse ocular malformations. This study aimed to investigate the disease-causing gene in members of a BPES pedigree presenting with the rare features of anisometropia, unilateral pathologic myopia (PM), and congenital cataracts.MethodsThe related BPES patients underwent a comprehensive ocular examination. Next, whole-exome sequencing (WES) was performed to screen for the disease-causing genetic variants. A step-wise variant filtering was performed to select candidate variants combined with the annotation of the variant's pathogenicity, which was assessed using several bioinformatic approaches. Co-segregation analysis and Sanger sequencing were then conducted to validate the candidate variant.ResultsThe variant c.672_701dup in FOXL2 was identified to be the disease-causing variant in this rare BPES family. Combined with clinical manifestations, the two affected individuals were diagnosed with type II BPES.ConclusionThis study uncovered the variant c.672_701dup in FOXL2 as a disease causal variant in a rare-presenting BPES family with anisometropia, unilateral pathogenic myopia, and/or congenital cataracts, thus expanding the phenotypic spectrum of FOXL2.

Interocular Symmetry in Retinal Nerve Fiber Layer Thickness in Children: The Hong Kong Children Eye Study.

The aim of this work is to determine the interocular differences in peripapillary retinal nerve fiber layer (p-RNFL) thickness and its associations among school children in Hong Kong. We conducted a population-based study including 4034 children aged 6-8years from the Hong Kong Children Eye Study (HKCES). All participants received comprehensive ocular examinations where p-RNFL thickness was measured using spectral-domain optical coherence tomography (SD-OCT). The degree of symmetry between both eyes was analyzed and represented by intraclass correlation coefficient (ICC) values. Multivariable linear regression analysis was used to investigate the associations between ocular and systemic factors with p-RNFL thickness difference. The study included 4034 children with a mean age of 7.61 ± 0.98years. The mean global p-RNFL thickness was 106.60 ± 9.41μm in right eyes and 105.99 ± 9.30μm in left eyes. The ICC for global p-RNFL difference was 0.866 (95% CI 0.858-0.873, p < 0.001). The symmetry displayed the largest values in nasal inferior quadrant with the ICC value of 0.736 (95% CI 0.721-0.749); and the smallest degree of symmetry was found to be in the superior temporal quadrant with the ICC value of 0.567 (95% CI 0.546-0.588). Axial length (AL) difference was found to have more pronounced correlation to interocular symmetry in p-RNFL thickness with the coefficient of 0.514 (p < 0.001). Normal variation in interocular symmetry exists in children. Our results can contribute to the establishment of a standard reference for interocular differences in OCT parameters in children. The interocular differences in AL should be considered in the interpretation of RNFL symmetry, in terms of identifying children at risk of developing glaucoma or other ocular disorders.

Novel compound heterozygous variants of the SEC23A gene in a Chinese family with cranio-lenticulo-sutural dysplasia based on data from a large cohort of congenital cataract patients

BackgroundCranio-lenticulo-sutural dysplasia (CLSD) is a rare dysmorphic syndrome characterized by skeletal dysmorphism, late-closing fontanels, and cataracts. CLSD is caused by mutations in the SEC23A gene (OMIM# 607812) and can be inherited in either an autosomal dominant or autosomal recessive pattern. To date, only four mutations have been reported to cause CLSD. This study aims to identify the disease-causing variants in a large cohort of congenital cataract patients, to expand the genotypic and phenotypic spectrum of CLSD, and to confirm the association between SEC23A and autosomal recessive CLSD (ARCLSD).MethodsWe collected detailed medical records and performed comprehensive ocular examinations and whole-exome sequencing (WES) on 115 patients with congenital cataracts. After suspecting that a patient may have CLSD based on the sequencing results, we proceeded to conduct transmission electron microscopy (TEM) on the cultured skin fibroblasts. The clinical validity of the reported gene-disease relationships for the gene and the disease was evaluated using the ClinGen gene curation framework.ResultsTwo novel compound heterozygous variants (c.710A > C p.Asp237Ala, c.1946T > C p.Leu649Pro) of the SEC23A gene, classified as variant of uncertain significance, were identified in the proband with skeletal, cardiac, ocular, and hearing defects. The observation of typical distended endoplasmic reticulum cisternae further supported the diagnosis of CLSD. Application of the ClinGen gene curation framework confirmed the association between SEC23A and ARCLSD.ConclusionThis study expands the genotypic and phenotypic spectrum of CLSD, proposes TEM as a supplemental diagnostic method, and indicates that congenital cataracts are a typical sign of ARCLSD.