Most glaucoma genetic data derive from European and East Asian cohorts, leaving high-consanguinity Middle Eastern populations under-characterized. This review synthesizes 33 Saudi-specific genetic studies (2014-2024, >9000 participants) to define a population-level glaucoma genetic architecture that diverges substantially from global models and carries direct precision medicine implications. Three findings distinguish the Saudi landscape. First, CYP1B1 functions as the dominant causal gene across both primary congenital glaucoma (PCG) and juvenile-onset open-angle glaucoma (JOAG), accounting for 76-86% of cases, with two founder alleles, p.G61E (penetrance 87.7%) and p.R469W (penetrance 93%), driving severe, early-onset phenotypes. Critically, MYOC and LTBP2, the primary JOAG genes in other populations, carry no pathogenic variants in Saudi cohorts, rendering standard multi-ethnic gene panels inadequate for this population. Second, adult-onset glaucoma follows a distinct polygenic architecture where APOE ε2 confers a near five-fold risk for primary angle-closure glaucoma (OR = 4.82), an effect absent or inconsistent in global datasets, and NOS3 variants associate with primary open-angle glaucoma specifically in men, a sex-stratified signal unreported outside Saudi cohorts. The MTHFR T/T genotype, common in European and Asian POAG patients, is entirely absent locally, indicating population-specific allelic distributions that alter folate-metabolism-related optic nerve susceptibility. Third, ACVR1 rs12997 associates across POAG, PACG, and pseudoexfoliation glaucoma (PXG), positioning BMP/TGF-β signaling as a shared mechanistic pathway spanning multiple subtypes. These findings argue for Saudi-specific genetic panels, CYP1B1-centered cascade testing in consanguineous families, and polygenic risk models incorporating local allele frequencies rather than globally derived weights.
To investigate the association between chronic kidney disease (CKD) severity and macular retinal structural differences measured by spectral-domain optical coherence tomography (SD-OCT), and to determine whether layer- and sector-specific retinal thinning patterns reflect systemic microvascular involvement. In this cross-sectional study of 1,515 participants with CKD from the UK Biobank, individuals were classified as CKD stages 1–2 or stages 3–5 according to KDIGO guidelines. Macular thickness was assessed across Early Treatment of Diabetic Retinopathy Study (ETDRS) sectors and segmented retinal layers. Eye-level linear mixed-effects models with a random intercept for participant ID were used to examine associations between CKD stage and retinal thickness, adjusting for age, sex, body mass index, systolic blood pressure, diastolic blood pressure, hemoglobin A1c (HbA1c), and intraocular pressure. A false discovery rate (FDR) correction was applied for multiple comparisons. Compared with CKD stages 1–2, CKD stage 3–5 was independently associated with significant thinning of multiple inner and photoreceptor-related retinal layers, including INL–ELM ( β = -1.52 μ m), INL–RPE ( β = -2.57 μ m), IS OS-RPE ( β = -1.02 μ m), and GCIPL ( β = -1.05 μ m) (all FDR-adjusted p < 0.05 ). Outer macular thickness was also significantly reduced. Sectoral analysis demonstrated pronounced thinning across all parafoveal sectors and most perifoveal sectors. In contrast, ELM-IS OS thickness, macular RNFL, and central macular thickness were not significantly associated with CKD stage after multiple-comparison correction. Thinning patterns were spatially consistent across macular regions. CKD stage 3–5 is associated with subtle but consistent macular retinal thinning, predominantly affecting parafoveal regions and inner retinal and photoreceptor-related layers. These findings support the potential role of OCT-derived macular metrics as noninvasive indicators of systemic microvascular burden in CKD.
Background:Cataract surgery is a common procedure that dramatically improves visual clarity. The outcomes for patients with diabetes can be sensitive to various health conditions such as diabetic retinopathy and macular edema. This investigation set out to evaluate and compare post-cataract surgery visual acuity outcomes between diabetic and non-diabetic controls and to evaluate relevant structural and surgical parameters. Methods:This retrospective observational study was conducted at King Khaled Eye Specialist Hospital (KKESH), where 200 eyes (100 diabetic patients and 100 non-diabetic patients) who were treated with phacoemulsification during October and November 2025 were included. Best-corrected visual acuity (BCVA), central macular thickness (CMT), macular edema and surgical results were examined in the analysis. Results:No statistically significant differences in postoperative BCVA were observed between diabetic and non-diabetic patients at one month (0.56 ± 0.39 vs 0.51 ± 0.42 logMAR, p = 0.338) or at final follow-up (0.44 ± 0.41 vs 0.43 ± 0.44 logMAR, p = 0.698). However, diabetic patients demonstrated significantly higher rates of postoperative macular edema (19.0% vs 6.0%, p = 0.005) and greater CMT values (289.17 ± 142.37 µm vs 253.81 ± 67.92 µm, p = 0.026). Progression of diabetic retinopathy was observed in 4% of diabetic eyes during follow-up. No statistically significant association was identified between surgeon experience level and postoperative visual outcomes or complication rates. Conclusion:Although visual acuity outcomes after cataract surgery are similar in diabetic and non-diabetic patients, those with diabetes show a greater prevalence of macular structural changes. It is recommended to conduct thorough preoperative evaluations and postoperative monitoring for macular complications in diabetic patients.
PurposeTo study the incidence, clinical features, microbiology, and visual outcome of endophthalmitis associated with glaucoma surgery in children at a tertiary care eye hospital in Saudi Arabia.MethodsThe medical records of patients <18 years of age who presented with endophthalmitis following glaucoma surgery between January 2008 and October 2018 were reviewed retrospectively.ResultsEndophthalmitis after glaucoma surgery was observed in 20 eyes, or 18 out of 853 eyes that underwent glaucoma surgery at our institution (2.1%; 3.3% for glaucoma drainage device [GDD] surgery and 0.9% for glaucoma filtration surgery [GFS]). The mean patient age at time of endophthalmitis was 5.2 ± 4 years (range, 1-15 years). Delayed endophthalmitis (developing at least 6 weeks after surgery) occurred in 13 of the 20 eyes (65%). The median interval between glaucoma surgery and the development of endophthalmitis was shorter after GDD surgery (59 days; range, 26-1325) compared with GFS (606 days; range, 20-2190). Visual outcome was generally poor, with counting fingers or worse in 14 of 20 eyes (70%). A causative organism was identified in 16 of 20 eyes (80%) either through a vitreous tap or vitrectomy specimen, and the most cultured organism was Streptococcus pneumoniae (45%).ConclusionsIn our study cohort, the incidence of endophthalmitis after GFS was 0.9% and 3.3% after GDD implant surgery; the incidence was higher than previously reported in adults, with poor long-term visual prognosis in the pediatric age group.
BACKGROUND:In our practice, we have observed that many children with primary congenital glaucoma (PCG) seem to have short stature. The purpose of this study was to investigate whether there is an association between PCG and short stature in children. METHODS:The medical records of children with PCG (mean age, 41.1 ± 18.9 months) who presented to our tertiary eye care center from January 2014 to December 2020 were reviewed retrospectively. Baseline characteristics, heights and weights of children were extracted from the record and plotted on standard height/weight charts. Z scores for height and weight were calculated, and short stature and low weight were classified as moderate or severe. RESULTS:This pilot study included 93 patients with PCG, 43 (46%) males and 50 (54%) females. Forty-three children (46%) had evidence of moderate or severely short stature (Z score < -2), with a roughly equal distribution by sex. Twenty-seven children (29%) had evidence of severe short stature (Z score < -3). Despite short stature, children tended not to be underweight: only 6 children (6%) were moderately or severely underweight. CONCLUSIONS:Our study suggests that children with PCG may be of shorter stature, but of normal weight for age. These findings warrant further evaluation in a larger detailed prospective study controlling for potential confounders such as socioeconomic status.
INTRODUCTION:Glaucoma drainage devices (GDDs) play a crucial role in managing refractory pediatric glaucoma. The Aurolab aqueous drainage implant (AADI) is a promising option, especially in regions where cost-effective interventions are essential. We aimed to assess the long-term outcomes of AADI compared to the Ahmed glaucoma valve (AGV) in Saudi children. METHODS:A cohort study was conducted at a tertiary eye care center in Riyadh, including patients ≤18 years who underwent AADI or AGV implantation between July 2014 and November 2019. Primary outcomes were intraocular pressure (IOP) control, anti-glaucoma medication (AGM) usage, the need for additional glaucoma surgery, and complications. Factors associated with treatment failure were examined using Cox proportion hazard modeling. RESULTS:Among 126 eyes (AADI = 56, AGV = 70), the mean follow-up was 55.52 ± 14.47 and 53.02 ± 21.85 months for AADI and AGV, respectively. AADI demonstrated comparable IOP control and AGM reduction to AGV over five years. The AADI group exhibited higher success rates than AGV (76.8% vs. 47%). AGV showed a significantly higher risk of failure compared to AADI (adjusted hazard ratio 2.75, P = 0.041). CONCLUSION:AADI proves to be a safe and effective option for refractory pediatric glaucoma. The long-term outcomes of AADI were not inferior to AGV. Despite consistently lower IOP and AGM usage in the AADI group from the 3rd to the 60th month, statistical significance was not achieved.
IntroductionWhile the exchange of a superior valved glaucoma drainage device (GDD) for a non-valved GDD has been reported for achieving glaucoma control, inferior GDD exchange for improving the cosmetic appearance of the eyes due to poor appearance caused by encapsulated GDDs has not been previously documented. Here, we report on two patients with inferior valved GDDs who underwent an exchange for non-valved devices for glaucoma control and cosmetic improvement.Case descriptionWe report on the case of a 23-year-old gentleman and that of an 8-year-old girl, both of whom had inferior valved GDDs with uncontrolled intraocular pressure and unsightly appearance due to encapsulated GDD plates within the palpebral aperture. Both patients were unhappy about the appearance of their eyes. In each case, improvements in both glaucoma control and cosmesis were achieved by exchanging the valved GDDs for non-valved ones.ConclusionExchanging a valved for a non-valved GDD might help improve the cosmetic appearance of the eyes, in addition to providing glaucoma control.
Purpose: To evaluate the outcomes of surgical intervention in eyes with neovascular glaucoma (NVG) and poor vision, comparing the Ahmed glaucoma implant with cyclophotocoagulation (CPC). Patients and Methods: This study is a double-armed cohort retrospective review of medical records of patients with NVG who had a visual acuity of 20/200 or less and underwent one of the two procedures as a primary intervention: Ahmed glaucoma valve (AGV) or cyclophotocoagulation (CPC). The study was conducted at King Khaled Eye Specialist Hospital in Riyadh, Saudi Arabia, from January 2014 to June 2019, with a total study period of 1 year. The main outcome measures included the surgical success rate, changes in intraocular pressure (IOP), the number of antiglaucoma medications, corrected distance visual acuity, and the reoperation rate for glaucoma. Results: The preoperative IOP was 40.4 +/- 10.6 mmHg (Median 40) in the CPC group and 39.4 +/- 10.2 mmHg (Median 40) in the AGV group (P = 0.6). At 1 year, the IOP ranged from 12.5 to 28 mmHg (Median 18) in the CPC group and 14 to 21.5 mmHg (Median 17) in the AGV group (P = 0.016). Survival analysis showed a 51% success rate in the CPC group and an 89% success rate at 1 year in the AGV group (p>0.0001). Conclusion: CPC and AGV procedures yielded good outcomes with similar IOP levels 12 months after the surgery. However, AGV demonstrated a higher overall success rate and a lower medication requirement than CPC.
BackgroundMedical Imaging and radiotherapy (MIRT) are at the forefront of artificial intelligence applications. The exponential increase of these applications has made governance frameworks necessary to uphold safe and effective clinical adoption. There is little information about how healthcare practitioners in MIRT in the UK use AI tools, their governance and associated challenges, opportunities and priorities for the future.MethodsThis cross-sectional survey was open from November to December 2022 to MIRT professionals who had knowledge or made use of AI tools, as an attempt to map out current policy and practice and to identify future needs. The survey was electronically distributed to the participants. Statistical analysis included descriptive statistics and inferential statistics on the SPSS statistical software. Content analysis was employed for the open-ended questions.ResultsAmong the 245 responses, the following were emphasised as central to AI adoption: governance frameworks, practitioner training, leadership, and teamwork within the AI ecosystem. Prior training was strongly correlated with increased knowledge about AI tools and frameworks. However, knowledge of related frameworks remained low, with different professionals showing different affinity to certain frameworks related to their respective roles. Common challenges and opportunities of AI adoption were also highlighted, with recommendations for future practice.
To develop criteria to predict visual hemifields with deep perimetric defects based on retinal nerve fibre layer (RNFL) reflectance, in a transparent process whose components can be assessed by independent laboratories analysing data from their own small groups. The analysis was carried out in four stages, using three independent groups of patients—30, 33 and 62 participants—with glaucoma and age-similar controls. The first stage used Group 1 to develop a criterion for RNFL reflectance images at 24, 36 or 48 μm below the inner limiting membrane (ILM). The second stage evaluated the criterion using Group 2. The third stage developed a second criterion to improve performance for Groups 1 and 2 combined. The fourth stage evaluated the second criterion with Group 3. Confidence intervals for sensitivity and specificity were then computed by combining results from all three groups. The first criterion identified all hemifields with deep defects and no hemifields from controls, using a within-eye reference for healthy RNFL. For Group 2, specificity remained high but sensitivity was reduced. The second criterion improved sensitivity by using location-specific reference values. For Group 3, sensitivity remained high but reduced specificity was found. Confidence intervals showed substantial overlap for the two criteria. We developed two criteria to identify patients with deep perimetric defects with high specificity and sensitivity. Several improvements are warranted: automated identification of the fovea-disc angle and optic disc locations, evaluation of normal variation in patterns of RNFL thickness, improved segmentation of ILM and major vasculature, reduction of within-eye variability in RNFL reflectance of healthy eyes, assessment of effects of image quality, assessment of effects of comorbidity and effectiveness of other devices.
Introduction: Artificial Intelligence (AI) has the potential to transform medical imaging and radiotherapy; both fields where radiographers' use of AI tools is increasing. This study aimed to explore the views of those professionals who are now using AI tools. Methods: A small-scale exploratory research process was employed, where qualitative data was obtained from five UK-based participants; all professionals working in medical imaging and radiotherapy who use AI in clinical practice. Five semi-structured interviews were conducted online. Verbatim transcription was performed using an open-source automatic speech recognition model. Conceptual content analysis was performed to analyse the data and identify common themes. Results: Participants spoke about the possibility of AI deskilling staff and changing their roles, they discussed issues around data protection and data sharing strategies, the important role of effective leadership of AI teams, and the seamless integration into workflows. Participants thought that the benefits of adopting AI were smoother clinical workflows, support for the workforce in decision-making, and enhanced patient safety/care. They also highlighted the need for tailored AI education/training, multidisciplinary teamwork and support. Conclusion: Participants who are now using AI tools felt that clinical staff should be empowered to support AI implementation by adopting new and clearly defined roles and responsibilities. They suggest that attention to patient care and safety is a key to successful AI adoption. Despite the increasing adoption of AI, participants in the UK described a gap in knowledge with professionals still needing clear guidance, education and training regarding AI in preparation for more widespread adoption.
PURPOSE:To report the surgical success and response to treatment for children undergoing cyclophotocoagulation (CPC) for refractory pediatric glaucoma.METHODS:The medical records of children with a diagnosis of glaucoma who underwent a first CPC between May 2000 and May 2020 were reviewed retrospectively. The cumulative probability of success was assessed. For definition 1, treatment success was defined as IOP ≤21 mm Hg at all the visits after the first 3 months without the need for additional glaucoma surgery or repeat CPC. For definition 2, repeat CPC did not constitute failure.RESULTS:Of 300 eyes that underwent CPC, we identified 262 eyes eligible for inclusion. The mean age at time of first treatment was 5.33 ± 5.03 years, with a mean follow-up of 4.3 ± 4.2 years (31 eyes having at least 10 years of follow-up). The success rates for definitions 1 and 2 were 26.7% (95% CI, 21.7%-32.4%) and 46.2% (95% CI, 40.2%-52.3%), respectively. Older age was associated with a lower risk of failure after both single CPC (HR, 0.92; 95% CI, 0.88-0.96; P < 0.001) and multiple CPCs (HR, 0.95; 95% CI, 0.90-1.00, P = 0.073). Of the 262 eyes, 107 (41%) had sustained IOP-lowering with a single treatment and 56 (21%) with multiple treatments; 35 (13%) had a transient response, and 64 (24%) had no response.CONCLUSIONS:Glaucoma control through CPC often requires multiple treatments, with around a quarter of children responding suboptimally. Older children are more likely to exhibit successful IOP lowering.
The secondary childhood glaucomas are a heterogenous group, often associated with other ocular or systemic abnormalities. These childhood glaucomas are distinct from primary childhood glaucomas, both in terms of their clinical features and their response to conventional treatment. Surgical management can be challenging in children with secondary glaucoma. On average, this group undergo more surgical procedures and revisions than those with primary congenital glaucoma. We provide a synopsis of secondary childhood glaucomas in terms of classification, clinical features, and management strategies, with emphasis on recent developments.
Purpose To assess the risk factors for suprachoroidal hemorrhage (SCH) following glaucoma surgery in pediatric patients at a tertiary eye center. Methods The medical records of 326 patients (326 eyes) who underwent glaucoma surgery between January 2014, and September 2017 were reviewed retrospectively. Seventeen cases with SCH were compared with 309 controls who underwent uneventful glaucoma surgery during the same period. We documented age, sex, baseline intraocular pressure, glaucoma diagnosis, previous surgery, preoperative axial length, pachymetry, lens status and type of glaucoma surgery performed (whether combined with cataract or other glaucoma procedure or being standalone). Results Of the 17 cases of SCH, only a single case occurred intraoperatively; the remainder occurred in the early postoperative period. The most frequent diagnosis was primary congenital glaucoma (PCG), accounting for 10 patients (59%) in cases and 247 (80%) in controls, followed by glaucoma associated with nonacquired ocular anomalies, which accounted for 3 cases (18%) and 22 controls (7%). Aphakia and combined surgeries (in the univariate analysis) were found to be possible risk factors for the development of SCH, with none achieving significance in the multivariable analysis. Conclusions In our study cohort, combined surgeries as well aphakia were possible risk factors for SCH.
PURPOSE To compare the outcomes of the Ahmed glaucoma valve (AGV) (New World Medical, Inc) with the Baerveldt glaucoma implant (BGI) (Johnson & Johnson Vision) in primary congenital glaucoma (PCG). METHODS This was a retrospective review of children with PCG who underwent AGV or BGI implantation with a minimum follow-up of 6 months. Main outcome measures were intraocular pressure (IOP), the number of glaucoma medications, success rate, complications, and surgical revisions. RESULTS The study included 153 eyes of 86 patients (120 eyes in the AGV group and 33 eyes in the BGI group), and the mean follow-up period was 58.7 ± 6.9 months in the AGV group and 58.5 ± 5.0 months in the BGI group. At baseline, IOP was lower in the AGV group (33 ± 6.3 vs 36.4 ± 6.1 months; P = .004) and the number of glaucoma medications was comparable between groups (3.4 ± 0.9 vs 3.6 ± 0.5 medication; P = .183). At 5 years, the mean IOP (18.4 ± 5.0 vs 16.3 ± 2.5 mm Hg; P = .004) and number of glaucoma medications (2.1 ± 1.3 vs 1.0 ± 1.0 medication; P = .001) were significantly less in the BGI group. Furthermore, the surgical success was 53.4% in the AGV group and 78.8% in the BGI group (P = .013). CONCLUSIONS Both the AGV and BGI were successful in providing adequate IOP control in patients with PCG. Long-term follow-up showed that the BGI was associated with a lower IOP, fewer glaucoma medications, and a higher success rate. [J Pediatr Ophthalmol Strabismus. 20XX;X(X):XX-XX.].
Technological advancements in computer science have started to bring artificial intelligence (AI) from the bench closer to the bedside. While there is still lots to do and improve, AI models in medical imaging and radiotherapy are rapidly being developed and increasingly deployed in clinical practice. At the same time, AI governance frameworks are still under development. Clinical practitioners involved with procuring, deploying, and adopting AI tools in the UK should be well-informed about these AI governance frameworks. This scoping review aimed to map out available literature on AI governance in the UK, focusing on medical imaging and radiotherapy. Searches were performed on Google Scholar, Pubmed, and the Cochrane Library, between June and July 2022. Of 4225 initially identified sources, 35 were finally included in this review. A comprehensive conceptual AI governance framework was proposed, guided by the need for rigorous AI validation and evaluation procedures, the accreditation rules and standards, and the fundamental ethical principles of AI. Fairness, transparency, trustworthiness, and explainability should be drivers of all AI models deployed in clinical practice. Appropriate staff education is also mandatory to ensure AI’s safe and responsible use. Multidisciplinary teams under robust leadership will facilitate AI adoption, and it is crucial to involve patients, the public, and practitioners in decision-making. Collaborative research should be encouraged to enhance and promote innovation, while caution should be paid to the ongoing auditing of AI tools to ensure safety and clinical effectiveness.
Many studies have assessed structure–function relations in glaucoma, but most without topographical comparison across the central 30°. We present a method for assessing structure–function relations with en face images of retinal nerve fiber layer (RNFL) bundles allowing topographical comparison across much of this retinal area. Forty-four patients with glaucoma (median age 61 years) were recruited and tested with Optical Coherence Tomography (OCT) and perimetry. Six rectangular volume scans were gathered, and then montaged to provide en face views of the RNFL bundles. We calculated the proportion of locations showing a perimetric defect that also showed an en face RNFL defect; and the proportion of locations falling on an RNFL defect that also showed a perimetric defect. A perimetric defect for a location was defined as a total deviation (TD) value equal to or deeper than -4 dB. We found that the median (IQR) number of locations with abnormal RNFL bundle reflectance that also had abnormal TD was 78% (60%) and for locations with abnormal TD that also had abnormal RNFL bundle reflectance was 75% (44%). We demonstrated a potential approach for structure–function assessment in glaucoma by presenting a topographic reflectance map, confirming results of previous studies and including larger retinal regions.
PurposeTo synthesize the outcome measures used by randomized controlled trials (RCTs) for childhood glaucoma.MethodsMEDLINE, EMBASE, and Scopus were searched from inception to February 17, 2023. Randomized controlled trials and observational studies related to childhood glaucoma were included. Primary and secondary outcomes were extracted and the data was used to generate a literature review.ResultsThis review identified 42 unique reports pertaining to childhood glaucomas. Most of the studies originated from Egypt, India, and the USA. Intraocular pressure (IOP) outcomes were the most frequent outcomes studied, followed by clinical outcomes and safety outcomes. Clinical outcomes were the most common secondary outcomes studied, followed by IOP outcomes and safety outcomes.ConclusionsThis systematic review found heterogenous outcomes with IOP outcomes as the most studied primary outcome. As the remaining outcomes were not consistently utilized, this review highlights the need for a consensus on studies of pediatric glaucoma.
Artificial intelligence (AI)-enabled applications are increasingly being used in providing healthcare services, such as medical imaging support. Sufficient and appropriate education for medical imaging professionals is required for successful AI adoption. Although, currently, there are AI training programmes for radiologists, formal AI education for radiographers is lacking. Therefore, this study aimed to evaluate and discuss a postgraduate-level module on AI developed in the UK for radiographers. A participatory action research methodology was applied, with participants recruited from the first cohort of students enrolled in this module and faculty members. Data were collected using online, semi-structured, individual interviews and focus group discussions. Textual data were processed using data-driven thematic analysis. Seven students and six faculty members participated in this evaluation. Results can be summarised in the following four themes: a. participants’ professional and educational backgrounds influenced their experiences, b. participants found the learning experience meaningful concerning module design, organisation, and pedagogical approaches, c. some module design and delivery aspects were identified as barriers to learning, and d. participants suggested how the ideal AI course could look like based on their experiences. The findings of our work show that an AI module can assist educators/academics in developing similar AI education provisions for radiographers and other medical imaging and radiation sciences professionals. A blended learning delivery format, combined with customisable and contextualised content, using an interprofessional faculty approach is recommended for future similar courses.