Juvenile Open-angle Glaucoma Research Articles

Outcomes of microcatheter-assisted trabeculotomy in adult patients with primary congenital glaucoma and juvenile open-angle glaucoma: A case series

Abstract Trabeculotomy is conventionally performed using a rigid probe, allowing for 180° trabeculotomy. More recently, microcatheter-assisted 360° trabeculotomy (MCAT) has shown safe and effective results in pediatric glaucoma cases, particularly in primary congenital glaucoma (PCG) and to a lesser extent in juvenile open-angle glaucoma (JOAG). This case report highlights the successful intraocular pressure (IOP) control following iTrack®-assisted trabeculotomy in one adult with PCG and two with JOAG. Four eyes of three adults, aged 50, 28, and 45 years, underwent MCAT for uncontrolled PCG or JOAG, with no prior surgical history. No major complications were observed. Postoperatively, IOP ranging from 11 to 15 mmHg was achieved without the need for topical therapy or reoperation during a follow-up period of 12–14 months. These cases suggest that MCAT is both effective and safe for adults with PCG or JOAG requiring surgery.

Suicide risk in juvenile open angle glaucoma patients.

To investigate the association between juvenile open angle glaucoma (JOAG) and mental health among Koreans. This study used nationally representative data from the 8th Korea National Health and Nutrition Examination Survey (KNHANES) 2021. Glaucoma diagnosis followed the International Society of Geographical and Epidemiological Ophthalmology criteria based on glaucomatous structural defects, visual field defects, corrected vision, and intraocular pressure. As outcomes, suicidal behaviors, psychiatric counseling, and depression were evaluated through mental health questionnaires. Odds ratios (ORs) with 95% confidence intervals (CIs) were estimated using logistic regression models, adjusting for covariates. Among 7090 participants, 3446 met the inclusion criteria for analysis, and 88 (2.6%) were diagnosed with open angle glaucoma (OAG). After adjusting for age, sex, and best-corrected visual acuity (VA), participants with OAG were revealed to have significantly higher odds of suicidal behaviors (i.e., ideation, planning, or attempts) compared with those without OAG (OR: 2.70; 95%CI: 1.12-6.54; P=0.028). This association remained significant after further adjustments for socioeconomic status, lifestyle factors, and presence of chronic conditions (P=0.031 and 0.035, respectively). However, there was no significant difference for the other two outcomes, psychiatric counseling and depression. An age-stratified analysis revealed a stronger association between OAG and suicidal behaviors in younger JOAG participants (<40y) than in older OAG participants (≥40y; OR: 3.80 vs 2.22; 95%CI: 0.79-18.22 vs 0.56-8.80, respectively). OAG patients show a higher risk of suicidal behaviors than those without glaucoma particularly in JOAG patients.

Age, Sex, and Clinical Characteristics of Juvenile Open-Angle Glaucoma Patients in a Saudi Tertiary Hospital: A Retrospective Study of Surgical and Non-Surgical Outcomes.

Background/Objectives: Juvenile Open Angle Glaucoma (JOAG) is a condition that presents peculiar issues because it starts at a very early age and, in the end, causes substantial vision loss. This study aimed to analyze the age and gender distribution and treatment outcomes in JOAG patients. Methods: We carried out a retrospective study at King Abdul Aziz University Hospital, Riyadh, Saudi Arabia, from 2015 to 2022. We extracted data from the medical records. Visual acuity data were converted to the logarithm of the minimum angle resolution (LogMAR) for standardized analysis. The CARL ZEISS Humphrey 745i Field Analyzer/HFA II-i Visual Field Analyzer was used to perform visual field examinations under the 24-2 program SITA standard. Results: The study involved 45 JOAG patients (87 affected eyes) with a mean age of 26.91 years. Myopia was the prevailing trait (93%), and a family history of glaucoma was found in 51.1% of cases. Most of the patients presented with severe visual field defects in both eyes (right-57.1%, left-44.4%). Regarding visual acuity, we found that the majority of affected categories belonged to either mild or moderate in both eyes. Initial and final Intraocular pressure (IOP) measurements together showed a significant reduction (p < 0.001) and clearly demonstrated the need for IOP control. Surgical and non-surgical treatments significantly reduced IOP, with no gender or eye differences Conclusions: This research offers important data concerning JOAG demographics (age and gender), clinical picture, and treatment results. Though early-onset presents challenges, multidimensional therapeutic methods have great potential to get JOAG under control and maintain visual function. Additional research is needed to study the genetic causes of JOAG and assess the long-term treatment outcomes.

Profile of Glaucoma Patients at a Tertiary Care Centre in Gokarneshwor, Kathmandu, Nepal

Glaucoma is a progressive optic neuropathy characterized by irreversible optic nerve damage and progressive visual field loss. It is the second leading cause of global irreversible blindness. The objective of this study was to find the prevalence, clinical profile and distribution of various types of glaucoma in patients attending a tertiary care center of Kathmandu. This was a retrospective, descriptive hospital based study conducted at glaucoma clinic at tertiary care center from March 2022 to February 2024 (24 months). Patients’ demographic profile along with comprehensive eye examination findings were reviewed from the records. Data analysis was done with SPSS version 18 and chi-square test was used for analysis. P value &lt;0.05 was considered as statistically significant. Two hundred and four patients were diagnosed with glaucoma during 2 years period. The Mean age among glaucoma patients was 55.12 ± 16.7 years. Female was common 109 (53.4%) than male 95 (46.6%). Open angle was 185 (90.7%) and close angle was 19 (9.3%) on gonioscopy. Prevalence of glaucoma seen in this study was 0.72% of total outpatients (27,970). Among the glaucoma patients, primary open angle glaucoma (POAG) was more common 84 (41.2%) followed by glaucoma suspect 46 (22.5%), normal tension glaucoma (NTG) 26 (12.7%), primary angle closure disease 19 (9.4%), ocular hypertension (OHT) 12 (5.9%), secondary glaucoma 9 (4.4%) and juvenile open angle glaucoma (JOAG) 8 (3.9%). In primary angle closure disease, primary angle closure glaucoma (PACG) was 10 (4.9%), angle closure attack 5 (2.5%) and primary angle closure suspect (PACS) 4 (2%). The most common secondary glaucoma was pigmentary glaucoma 3 (1.5%) followed by steroid induced glaucoma 2 (1%), neovascular glaucoma 2 (1%) and inflammatory glaucoma 2 (1%). The most common type of glaucoma seen in a tertiary care center of Nepal was POAG. Glaucoma was more prevalent in female patients after forty years. The prevalence of glaucoma increases with increasing age. So, the patients above the age of 40 should be screened for glaucoma for early detection and prompt treatment. Awareness of glaucoma is needed as it is one of the leading causes of blindness.

Modified viscotrabeculotomy versus modified trabeculotomy in late-onset primary congenital, juvenile, and secondary open-angle glaucoma.

To compare modified viscotrabeculotomy (VCO-Tbo) to modified trabeculotomy (Tbo) in late-onset primary congenital, juvenile open-angle, steroid-induced, and pigmentary glaucoma. Patients were randomly assigned to VCO-Tbo and Tbo groups in this study. Intraocular pressure (IOP), antiglaucoma medications, and success/failure rates were assessed. A linear mixed model was used to compare the change trend at different follow-up times. Survival time was evaluated using the Kaplan-Meier graph and Log-Rank test. The mean IOP at 1, 3, and 12 months in the VCO-Tbo group was 14.1 ± 3.1, 15.9 ± 3 and 17 ± 3.1 mmHg, respectively. The mean IOP at the same time points in the Tbo group was 15.9 ± 3.3, 17.6 ± 3.5 and 18.4 ± 3.2 mmHg (P = 0.051, 0.058, 0.088, respectively). The VCO-Tbo group had significantly lower IOP after six months (16.5 ± 4.1 mmHg vs. 18.7 ± 3.8 mmHg; p = 0.031) and by the last visit (16.8 ± 2.1 mmHg vs. 18.8 ± 2 mmHg; p = 0.013). The reduction in the number of medications was significant in both groups compared to baseline (P < 0.001), but there was no significant difference between groups (P = 0.450). The complete and qualified success rate was 43.9% and 34.1% in the VCO-Tbo group and 46.8% and 10.6% in the Tbo group at the final follow-up (p = 0.040, and 0.039, respectively). Both procedures are effective in IOP and medication reduction. The survival time and efficacy of modified trabeculotomy can be augmented by injecting cohesive viscoelastic in the Schlemm's canal.

Overview of Central Corneal Thickness in Patients with Glaucoma: A Single Center Observational Study at Dr. M. Djamil General Hospital, Padang, Indonesia

Background: Central corneal thickness (CCT) is an important risk factor in the diagnosis and management of glaucoma. This study aims to determine the CCT picture of various types of glaucoma at Dr. M. Djamil General Hospital Padang. Methods: This descriptive retrospective study involved data from glaucoma patients at Dr. M. Djamil General Hospital Padang for the period January 2019 - December 2020. CCT data was obtained from medical records and OCT computer data. Descriptive analysis was carried out to see the distribution of CCT in ocular hypertension (OHT), glaucoma suspect (GS), normal tension glaucoma (NTG), primary open-angle glaucoma (POAG), and juvenile open-angle glaucoma (JOAG) groups. Results: A total of 123 glaucoma patients were analyzed. The overall mean CCT was 535.50 ± 43.82 µm. The highest mean CCT was in the OHT group (566.30 ± 32.07 µm) and the lowest in POAG (523.39 ± 39.43 µm). The mean age of patients was 35.19 ± 16.20 years. The POAG group had the highest mean age (52.52 ± 9.54 years), while the JOAG group had the lowest (22.00 ± 5.84 years). Conclusion: There are variations in CCT in various types of glaucoma, with OHT having the highest CCT and POAG the lowest. This data can be a basis for consideration in the diagnosis and management of glaucoma in Indonesia.

Choroidal thickness in juvenile open angle glaucoma: insights from a south asian case-control study.

The purpose of this study is to compare choroidal thickness in juvenile open angle glaucoma (JOAG) and healthy controls using spectral domain optical coherence tomography (SD-OCT) and study its correlations. In this case-control study, 56 eyes of 28 JOAG patients and an equal number of controls were recruited. SD-OCT was used to measure the choroidal thickness (ChT), in the macular region at 5 locations: subfoveal, 1500µm and 3000µm nasal and temporal to the foveal center, and in the peripapillary region at 6 locations: up to 1500µm, nasal and temporal to the disc, respectively. The ChT and its correlations with age, intraocular pressure, cup-to-disc ratio, central corneal thickness, mean deviation, and axial length were studied. The average macular ChT in JOAG was 306.30 ± 56.49µm vs. 277.12 ± 64.68µm in controls. The average peripapillary ChT in JOAG was 197.79 ± 44.05µm vs. 187.24 ± 38.89µm in controls. The average total ChT (p = 0.042), the average macular ChT (p = 0.022), the subfoveal ChT (p = 0.022), the ChT 1500µm (p < 0.001), and 3000µm temporal to the fovea (p = 0.002) were significantly thicker in the JOAG group. In the JOAG group, the average macular ChT had a significant negative correlation with age, whereas axial length was positively correlated with the average peripapillary ChT. In this South Asian cohort of JOAG, the average total ChT, average macular ChT, subfoveal ChT, and ChT at 1500µm, and 3000µm temporal to the fovea were significantly thicker when compared to healthy controls.

Selective laser trabeculoplasty in the treatment of juvenile open angle glaucoma patients under 25years of age.

To retrospectively evaluate the effectiveness and reliability of selective laser trabeculoplasty (SLT) treatment in juvenile open angle glaucoma (JOAG) cases. The 46 eyes of 28 cases that had undergone SLT for JOAG and had a follow-up of at least one month were included in the study. The pre-SLT, month 1, month 6, year 1, year 2, and final follow-up intraocular pressure (IOP); the number of drugs before and after the SLT procedure; and the complications caused by the SLT were recorded. An IOP below 21mmHg without any additional medication or glaucoma surgery and an IOP decrease of 20% or more compared to the baseline were considered successful. There were 18 females and 10 males with a mean age of 17.52 ± 2.7 (13-22) years. The cases were followed-up for a mean duration of 39 (5-59) months. The mean IOP was 23.93 ± 0.52mmHg before SLT and decreased to 17.15 ± 0.57mmHg at month 1 after the procedure, 17.17 ± 0.52mmHg at month 6, 18.02 ± 0.77mmHg at year 1, 18.12 ± 0.48mmHg at year 2, and 20.93 ± 0.69mmHg at the final follow-up. The post-SLT IOP measurements at all times were found to be significantly lower than the pre-SLT values (p < 0.001). The mean number of drugs was 1.5 before the SLT and 0.59 afterwards (p < 0.001). The most common complications after SLT were anterior chamber inflammation in 29 cases (63.04%), hyperemia in 20 (43.40%) cases (4.34%), an early period IOP increase of 5mmHg or more in 11 cases (23.91%), and mild ocular pain in 2 cases (4.34%). SLT is an effective and reliable method for JOAG treatment.

Exploring the Genetic Landscape of Childhood Glaucoma.

Childhood glaucoma, a significant cause of global blindness, represents a heterogeneous group of disorders categorized into primary or secondary forms. Primary childhood glaucoma stands as the most prevalent subtype, comprising primary congenital glaucoma (PCG) and juvenile open-angle glaucoma (JOAG). Presently, multiple genes are implicated in inherited forms of primary childhood glaucoma. This comprehensive review delves into genetic investigations into primary childhood glaucoma, with a focus on identifying causative genes, understanding their inheritance patterns, exploring essential biological pathways in disease pathogenesis, and utilizing animal models to study these mechanisms. Specifically, attention is directed towards genes such as CYP1B1 (cytochrome P450 family 1 subfamily B member 1), LTBP2 (latent transforming growth factor beta binding protein 2), TEK (TEK receptor tyrosine kinase), ANGPT1 (angiopoietin 1), and FOXC1 (forkhead box C1), all associated with PCG; and MYOC (myocilin), associated with JOAG. Through exploring these genetic factors, this review aims to deepen our understanding of the intricate pathogenesis of primary childhood glaucoma, thereby facilitating the development of enhanced diagnostic and therapeutic strategies.

Management of primary childhood glaucoma: Evaluation of practice, practice gaps, and needs in a low-resource country

Abstract Purpose: To evaluate the current practice, equipment availability, and training needs for managing childhood glaucoma in Nigeria. Materials and Methods: An online questionnaire (Google Forms) was distributed through E-mails and social media platforms of pediatric ophthalmologists and glaucoma specialists who practice in Nigeria and manage glaucoma in children aged 0–16 years. Information concerning sociodemographic characteristics, type of practice, location of practice, years of practice, status, and preferred practices in the management of childhood glaucoma cataracts were obtained and analyzed with SPSS. Results: Thirty (23.3%) out of 129 eligible participants indicated they perform glaucoma surgeries in children. The majority (66.6%) had practiced as specialists for 10 years or less, and 70% were pediatric ophthalmologists. A third of the respondents practiced in the country’s southwest region, with none in the Northeast region. The most common surgery performed for primary congenital glaucoma was combined trabeculotomy trabeculectomy, while trabeculectomy was the most common surgery performed for juvenile open-angle glaucoma. Two respondents reported performing glaucoma drainage device surgery and seven reported possessions of skills for goniotomy. All centers had trabeculectomy instrument sets, while three centers had facilities for endolaser cyclophotocoagulation, and only two centers had knives for goniotomy. Antimetabolites were routinely used for childhood glaucoma surgeries by 26 (86.7%) respondents, and the most common antimetabolite used was mitomycin (21; 80.8%). Conclusion: There is a need for the development of in-country training programs and the exchange of skills through collaboration among those providing glaucoma services within Nigeria to improve the care of children with glaucoma.

A Suspicious Cup Disc with High Intraocular Pressure (IOP) and Normal Perimetry: A Rare Self Case Report

Background: Intraocular pressure (IOP) assessment involves evaluating the force exerted by aqueous humor on the internal surface of the anterior eye. Elevated IOP poses a substantial risk for glaucomatous optic neuropathy and is a key modifiable clinical risk factor. This study aims to explore cases of ocular hypertension coupled with optic nerve cupping, suspected to be glaucoma, providing comprehensive details of examination results, diagnosis, and subsequent management.&#x0D; Case presentation: A 23-year-old Asian male underwent an ocular examination, revealing average IOP levels measured using non-contact tonometry. Despite no complaints, consecutive measurements noted 28 mmHg for the right eye and 26 mmHg for the left eye. Initial assessments by a glaucoma specialist indicated open-angle anterior chambers. Optical coherence tomography revealed cup disc ratios of 0.7 to 0.8 for both eyes. Medication (Timol) was prescribed, adjusting with oral citicoline and brinzolamide. The diagnosis evolved to juvenile open-angle glaucoma (JOAG). Visual field testing showed normal results. Discontinuation of treatment led to reclassifying the diagnosis as ocular hypertension and scheduling follow-up OCT examinations for five years.&#x0D; Conclusion: The patient exhibited corneal thickness ≥610 μm, CDR ≥0.7 μm, IOP &gt;25 mmHg, and maintained good visual field conditions. Additional research is essential to understand the correlation between corneal thickness and other eye conditions. Recognizing potential overdiagnosis due to high IOP and large CDR emphasizes the need for meticulous clinical assessment and advanced diagnostic examinations to distinguish physiological and pathological conditions.

Genetic changes and testing associated with childhood glaucoma: A systematic review.

Many forms of childhood glaucoma have been associated with underlying genetic changes, and variants in many genes have been described. Currently, testing is variable as there are no widely accepted guidelines for testing. This systematic review aimed to summarize the literature describing genetic changes and testing practices in childhood glaucoma. This systematic review was conducted in accordance with the Preferred Reporting Items for Systematic review and Meta-Analyses (PRISMA) 2020 guidelines and registered with Prospero (ID CRD42023400467). A comprehensive review of Pubmed, Embase, and Cochrane databases was performed from inception through March 2, 2023 using the search terms: (glaucoma) AND (pediatric OR childhood OR congenital OR child OR infant OR infantile) AND (gene OR genetic OR genotype OR locus OR genomic OR mutation OR variant OR test OR screen OR panel). Information was extracted regarding genetic variants including genotype-phenotype correlation. Risk of bias was assessed using the Newcastle-Ottawa Scale. Of 1,916 records screened, 196 studies met inclusion criteria and 53 genes were discussed. Among study populations, mean age±SD at glaucoma diagnosis was 8.94±9.54 years and 50.4% were male. The most common gene discussed was CYP1B1, evaluated in 109 (55.6%) studies. CYP1B1 variants were associated with region and population-specific prevalence ranging from 5% to 86% among those with primary congenital glaucoma. MYOC variants were discussed in 31 (15.8%) studies with prevalence up to 36% among patients with juvenile open angle glaucoma. FOXC1 variants were discussed in 25 (12.8%) studies, which demonstrated phenotypic severity dependent on degree of gene expression and type of mutation. Overall risk of bias was low; the most common domains of bias were selection and comparability. Numerous genes and genetic changes have been associated with childhood glaucoma. Understanding the most common genes as well as potential genotype-phenotype correlation has the potential to improve diagnostic and prognostic outcomes for children with glaucoma.

The comparison of corneal densitometry in cases with glaucoma following childhood cataract surgery and juvenile glaucoma

PurposeTo compare the corneal densitometry (CD) in pediatric cases with glaucoma following childhood cataract surgery and juvenile open-angle glaucoma (JOAG).MethodsThis prospective comparative study involved 13 eyes with JOAG, 12 eyes with pseudophakic glaucoma, 13 eyes with aphakic glaucoma, and 15 control subjects. Pentacam HR Scheimpflug corneal topography was employed to evaluate corneal thickness (CCT) and CD values.ResultsThe mean intraocular pressure (IOP) and CCT were significantly higher in aphakic glaucoma cases than the other groups (p = 0.001). In aphakic eyes, the mean CD values were higher in most of the anterior, center, and posterior layers of 0–2 mm, 2–6 mm, 6–10 mm, and total zones (p < 0.001 for all). In pseudophakic eyes, the mean CD values were statistically similar with that of aphakic eyes and higher than that of JOAG and control eyes in all layers of 0–2 mm zone and in anterior layer of 10–12 mm and anterior and total layers of 2–6 mm zones (p < 0.05 for all). The CD values demonstrated significant correlations with CCT values in both aphakic and pseudophakic eyes. However, a significant correlation of CD values with IOP was only demonstrated in aphakic eyes (p = 0.01 for all).ConclusionThe probable effects of childhood cataract surgery especially aphakia might cause corneal backscatter of light and increased CD in all layers in all zones of the cornea. Increased CD values and its correlation with CCT and IOP in aphakic glaucoma eyes may be of importance in clinical management.

Childhood glaucoma profile in a Southwestern Ethiopia tertiary care center: a retrospective study

BackgroundChildhood glaucoma is a major cause of childhood blindness worldwide. The profile of childhood glaucoma has not been well characterized in sub-Saharan Africa. Thus, this study was designed to describe demographics, clinical features, managements of childhood glaucoma, and improvements in visual acuity (VA) and intraocular pressure (IOP) from baseline to final visit.MethodsThis retrospective study included glaucoma patients below 18 years old who were diagnosed between September 2019 to August 2022. Childhood glaucoma diagnosis and classification was made as per the Childhood Glaucoma Research Network Classification (CGRN).ResultsA total of 105 children (181 eyes) were diagnosed with glaucoma. The most common type of childhood glaucoma was primary congenital glaucoma (PCG) constituting (42%, n = 76 eyes, 95% confidence interval (CI), 34.7–49.5%; P = 0.037), followed by glaucoma suspect (22.1%, n = 40 eyes, 95% CI, 16.3–28.9%; P < 0.001) and juvenile open-angle glaucoma (JOAG) (15.5%, n = 28 eyes, 95% CI, 10.5–21.6%; P < 0.001). While the most common type of secondary glaucoma was steroid-induced glaucoma, followed by glaucoma following cataract surgery. Bilateral glaucoma was found in 72.4% (n = 76 children, 95% CI, 62.8–80.7%; P < 0.001) of children. In both primary and secondary glaucoma, boys were affected more than girls, in ratio of 2:1 and 2.7:1, respectively. The mean age at presentation for patients with PCG was 2.7 years. Close to 93.4% (71) of PCG eyes were managed surgically, of which majority underwent combined trabeculotomy and trabeculectomy (CTT). Most of secondary glaucoma cases were treated medically. Overall, 85.3% (111) of eyes had successful control of IOP ≤ 21 mmHg.ConclusionPCG was the most common type of childhood glaucoma. One of a well-recognized challenge in developing countries, late presentation of patients with PCG, was also observed in our study. Which highlights, the need of increasing access to eye-care service and awareness of childhood glaucoma as a major public health issue. Steroid-induced glaucoma was the most common type of secondary glaucoma; appropriate measures should be taken to prevent this preventable glaucoma.

Surgical approaches to juvenile open-angle glaucoma

Surgical approaches to juvenile open-angle glaucoma

Clinical Characteristics and Surgical Outcomes of Turkish Patients With Pediatric Glaucoma Who Underwent Glaucoma Surgery in a University Hospital.

To describe the clinical characteristics and outcomes of a pediatric cohort surgically treated for primary or secondary pediatric glaucoma (PPG/SPG). A retrospective chart review was conducted of all patients with pediatric glaucoma who had surgery between 2013 and 2021. Relevant demographic and clinical data were cumulated and analyzed. Forty-two eyes of 29 patients (18 girls and 11 boys) were included: 22 (52.4%) primary congenital glaucoma (PCG), 7 (16.7%) juvenile open-angle glaucoma, and 13 (30.9%) SPG. Mean ages at presentation were 2.57 ± 2.87, 131.96 ± 27.71, and 62.09 ± 65.12 months, respectively. In this study, eyes with PCG presented the earliest, with the highest intraocular pressure (IOP) and thickest central corneal thickness (CCT). The mean number of glaucoma surgeries was 1.48 ± 0.71, with 38.1% of the eyes needing two or more glaucoma surgeries; trabeculectomy was the most frequent glaucoma surgery in this cohort. After surgical intervention, the overall mean IOP dropped from 32.25 ± 12.97 to 18.10 ± 9.23 mm Hg (P < .001). Moreover, the percentage using antiglaucoma medications decreased from 100% to 35.7% at the final visit, as did the number of medications prescribed per eye (2.69 ± 0.92 vs 1.05 ± 1.46, P ≤ .001). Mean best corrected visual acuity (BCVA), in patients who could have their BCVA measured, improved from 0.61 ± 0.61 to 0.53 ± 0.51 logMAR at final follow-up. Surgical intervention was shown to provide a well-controlled IOP, decrease dependance on glaucoma medications, and improve BCVA in both PPG and SPG. Multiple surgical interventions may be necessary in the treatment of some pediatric patients with glaucoma. Prognostically, thicker CCT was significantly associated with worse IOP control, more glaucoma surgeries, and more antiglaucoma medications at the final visit. Initial BCVA correlated significantly with BCVA at the final visit. [J Pediatr Ophthalmol Strabismus. 2024;61(3):188-197.].

Treatment Outcomes for Juvenile Open-Angle Glaucoma in Thailand.

Juvenile open-angle glaucoma patients with thick central corneas and negative family history were more likely to undergo surgery, mainly trabeculectomy with half requiring additional surgery within 10 years. To assess the characteristics and treatment outcomes of patients with juvenile open-angle glaucoma (JOAG) in Thailand. This retrospective, multicenter study included all patients diagnosed with JOAG over 12 years from two tertiary hospitals in Bangkok, Thailand. A total of 200 eyes from 104 patients were included in this study. The mean age of onset was 24.0±10.1 years (range 5-40), with male predominance (60.5%). Over 90% of patients had bilateral JOAG and 25% had a positive family history. Negative family history (AOR=4.59, P=0.02) and thick central corneal thickness (CCT) were surgical predictors (every 10 micron AOR=1.29, P=0.01). Over 70% of cases needed glaucoma surgery. Trabeculectomy with Mitomycin-C was performed on 131 eyes (65.5%) with a cumulative probability of complete success of 71.0%, 57.8%, 39.2%, and 26.9% and qualified success of 86.3%, 73.6%, 64.8%, and 45.7% at 1, 3, 5, and 10 years, respectively. Mean follow-up after surgery was 94.9 ± 69.8 months (range 13-153). There were no serious post-operative complications. Myopia and number of baseline glaucoma medications were significantly associated with surgical failure. Trabeculectomy with Mitomycin C was the most common primary surgery performed in Thai patients with JOAG, and successfully reduced intraocular pressure without significant complications. Patients with thicker corneas were more likely to undergo surgery. By 10 years, half of the patients required additional surgery and risk factors for failure included myopia and the number of medications.

Myocilin Mutation N480K Leads to Early Onset Juvenile and Adult-onset Primary Open Angle Glaucoma in a Six Generation Family.

A pathogenic autosomal dominant MYOC mutation N480K detected in 6 generations of an Indian family is primarily responsible for juvenile open angle glaucoma (JOAG) and adult-onset primary open angle glaucoma (POAG), emphasizing the importance of screening this mutation at a younger age. To screen myocilin mutations in a large South Indian family with early-onset JOAG and adult-onset POAG. In a large South Indian family with 20 members, 8 members diagnosed as JOAG, 7 members as POAG, 4 members as JOAG suspect, and 1 member as POAG suspect were screened for myocilin ( MYOC) mutations using Sanger sequencing. Whole exome sequencing was performed on clinically suspected JOAG/POAG individuals. Myocilin gene mutation N480K (c.1440C>G) was detected in 20 family members, including proband, of whom 8 were JOAG and 7 were POAG patients, 3 were JOAG suspects, and 2 were unaffected. Among the unaffected carriers, 1 was less than 5 years old, and another was 25 years old. The earliest to develop the disease was a 10-year-old child. The penetrance of the mutation was 95% over 10 years of age. This family had JOAG/POAG suspects with no N480K MYOC mutation, and they were further screened for other mutations using whole-exome sequencing. Polymorphisms CYP1B1 L432V and MYOC R76K were detected in 3 JOAG/POAG suspects, and among these 3, one had another CYP1B1 polymorphic variant R368H. The presence of the CYP1B1 polymorphism along with an MYOC polymorphic variant among the JOAG/POAG suspects needs additional studies to explore their combined role in the onset of glaucoma. This study reveals that MYOC mutation is primarily responsible for JOAG and adult-onset POAG in a family, emphasizing the importance of screening for this mutation at a younger age for early treatment.

Efficacy and Safety of Sutureless Deep Sclerectomy in Juvenile and Adult Open Angle Glaucoma: 2-Year Outcomes.

Sutureless deep sclerectomy (SDS) achieved significant reduction in primary open angle glaucoma (POAG) and juvenile open angle glaucoma (JOAG). To assess long-term results of SDS in cases with POAG and JOAG. A prospective interventional study included 84 eyes of 54 patients underwent SDS with the superficial scleral flap left un-sutured. Changes in intraocular pressure (IOP) were recorded over 2 years. Success was defined according to the world glaucoma association criteria: Criterion A: IOP ≤18mmHg and IOP reduction ≥30% from the preoperative status without medications [complete success (A1)], with and without medications [qualified success (A2)]. Criterion B: IOP ≤15mmHg and IOP reduction ≥40% from the preoperative status without medications [complete success (B1)], with and without medications [qualified success (B2)]. There was statistically significant reduction in IOP compared with the preoperative IOP (mean IOP = 26.21± 10.46mmHg) starting from 1 st postoperative day (mean IOP = 7.18 ± 1.8mmHg) till the end of follow-up period at 2 years (mean IOP = 15.85± 4.46) ( P < 0.001). Also, number of medications dropped significantly from 3.27 ± 1.14 to 0.82 ± 0.97 at the end of follow up period. At 2 years complete success (A1) was achieved in 57.1% and qualified success (A2) was achieved in 91.6% of cases. Subgroup analysis into males and females, POAG and JOAG showed no statistically significant difference between subgroups regarding IOP reduction. SDS is an effective and safe modification to deep sclerectomy in cases with POAG and JOAG.

A rare optineurin mutation in an Indian family with coexistence of JOAG and PCG.

This study focused on the genetic screening of Myocilin (MYOC), Cytochrome P450 family 1 subfamily B member 1 (CYP1B1), Optineurin (OPTN), and SIX homeobox 6 (SIX6) genes in a family with coexistence of primary congenital glaucoma (PCG) and juvenile open-angle glaucoma (JOAG). Sanger sequencing was used to examine the coding region of all four genes. Six different online available algorithms were used for the pathogenicity prediction of missense variant. Structural analysis was done using Garnier-Osguthorpe-Robson (GOR), PyMol, ChimeraX, and Molecular Dynamic (MD) Simulations (using Graphics Processing Unit (GPU)-enabled Desmond module of Schrödinger). There were a total of three sequence variants within the family. All seven algorithms determined that a single mutation, G538E, in the OPTN gene is pathogenic. The loops connecting the strands became more flexible, as predicted structurally and functionally by pathogenic mutations. Mutations create perturbations and conformational rearrangements in proteins, hence impairing their functioning. In this study, we describe a North Indian family in which members were having JOAG and PCG due to a rare homozygous/heterozygous mutation in OPTN. The coexistence of two types of glaucoma within a single pedigree suggests that certain OPTN mutations may be responsible for the onset of different glaucoma phenotypes.