Smart decision support system for keratoconus severity staging using corneal curvature and thinnest pachymetry indices.

BACKGROUND: This study proposes a decision support system created in collaboration with machine learning experts and ophthalmologists for detecting keratoconus (KC) severity. The system employs an ensemble machine model and minimal corneal measurements. METHODS: A clinical dataset is initially obtained from Pentacam corneal tomography imaging devices, which undergoes pre-processing and addresses imbalanced sampling through the application of an oversampling technique for minority classes. Subsequently, a combination of statistical methods, visual analysis, and expert input is employed to identify Pentacam indices most correlated with severity class labels. These selected features are then utilized to develop and validate three distinct machine learning models. The model exhibiting the most effective classification performance is integrated into a real-world web-based application and deployed on a web application server. This deployment facilitates evaluation of the proposed system, incorporating new data and considering relevant human factors related to the user experience. RESULTS: The performance of the developed system is experimentally evaluated, and the results revealed an overall accuracy of 98.62%, precision of 98.70%, recall of 98.62%, F1-score of 98.66%, and F2-score of 98.64%. The application's deployment also demonstrated precise and smooth end-to-end functionality. CONCLUSION: The developed decision support system establishes a robust basis for subsequent assessment by ophthalmologists before potential deployment as a screening tool for keratoconus severity detection in a clinical setting.

The utilization of artificial intelligence in glaucoma: diagnosis versus screening.

With advancements in the implementation of artificial intelligence (AI) in different ophthalmology disciplines, it continues to have a significant impact on glaucoma diagnosis and screening. This article explores the distinct roles of AI in specialized ophthalmology clinics and general practice, highlighting the critical balance between sensitivity and specificity in diagnostic and screening models. Screening models prioritize sensitivity to detect potential glaucoma cases efficiently, while diagnostic models emphasize specificity to confirm disease with high accuracy. AI applications, primarily using machine learning (ML) and deep learning (DL), have been successful in detecting glaucomatous optic neuropathy from colored fundus photographs and other retinal imaging modalities. Diagnostic models integrate data extracted from various forms of modalities (including tests that assess structural optic nerve damage as well as those evaluating functional damage) to provide a more nuanced, accurate and thorough approach to diagnosing glaucoma. As AI continues to evolve, the collaboration between technology and clinical expertise should focus more on improving specificity of glaucoma diagnostic models to assess ophthalmologists to revolutionize glaucoma diagnosis and improve patients care.

Multi-modal imaging for the detection of early keratoconus: a narrative review.

Keratoconus is a common progressive corneal disorder that can be associated with significant ocular morbidity. Various corneal imaging techniques have been used for the diagnosis of established cases. However, in the early stages of the disease, which include subclinical keratoconus and forme fruste keratoconus, detection of such cases can be challenging. The importance of detecting such cases is very important because early intervention can halt disease progression, improve visual outcomes and prevent postrefractive surgery ectasia associated with performing corneal refractive procedures in such patients. This narrative review aimed to examine several established and evolving imaging techniques for the detection of early cases of keratoconus. The utilization of combinations of these techniques may further increase their diagnostic ability.

Intrastromal corneal ring segments for keratoconus patients: up to 12 years follow up.

PURPOSE: Intrastromal corneal ring segment (ICRS) implantation is a surgical technique developed with the purpose of avoiding the progression of corneal protrusion and is considered a viable option for managing patients with keratoconus as it stabilizes or improves vision thus delaying or excluding the need of more advanced surgical intervention such as penetrating keratoplasty. However, long term follow up is still limited to determine its actual success in achieving this goal. The current project aims to provide an extended follow up reporting a mean followup of around 5 years, extending up to 12.5 years. METHODS: We recruited patients who performed their ICRS between 2008 and 2013. We contacted patients for a follow up exam with a possible corneal tomography. For each patient, we obtained baseline pre operative data and latest follow up data which included visual acuity, subjective refraction, clinical slit-lamp exam, and corneal tomography. We compared the change in best corrected visual acuity and maximum keratometry readings from clinical visits before ring implantation to the latest follow up. RESULTS: A total of 68 eyes for 53 patients were included. The mean duration of follow up was 53.87 (± 38.8) months, with a maximum duration of 153 months. We found a significant improvement in corrected and uncorrected visual acuity, keratometries and refraction during the follow up period. On correlation analysis, strong negative significant correlation was found between duration since surgery and change in uncorrected visual acuity (p = 0.03, ρ = 0.338) and mean keratometry values (p = 0.033, ρ = 0.296). At the latest follow up for majority of patients with more than 100 weeks of follow up (12 eyes), uncorrected visual acuity were equal to or worse than baseline. CONCLUSION: This study represents the largest follow up for ICRS implanted in keratoconus patients. Improvement of visual acuity following ICRS implantation can be expected in the first few years, after which, a decline occurring thereafter.

Plasma-Treated Electrospun PLGA Nanofiber Scaffold Supports Limbal Stem Cells.

The corneal epithelial layer is continuously replaced by limbal stem cells. Reconstructing this layer in vitro using synthetic scaffolds is highly needed. Poly-lactic-co-glycolic acid (PLGA) is approved for human use due to its biocompatibility and biodegradability. However, PLGA is hydrophobic, preventing cell adherence to PLGA membranes. PLGA scaffolds were prepared by electrospinning on a custom-made target drum spinning at a rate of 1000 rpm with a flow rate of 0.5 mL/h and voltage at 20 kV, then treated with oxygen plasma at 30 mA using a vacuum coater. Scaffolds were characterized by SEM, mechanically by tensile testing, and thermally by DSC and TGA. In vitro degradation was measured by weight loss and pH drop. Wettability was assessed through water uptake and contact angles measurements. Human limbal stem cells (hLSCs) were isolated and seeded on the scaffolds. Cell attachment and cytotoxicity assay were evaluated on day 1 and 5 after cell seeding. SEM showed regular fiber morphology with diameters ranging between 150 nm and 950 nm. Tensile strength demonstrated similar average stress values for both plasma- and non-plasma-treated samples. Scaffolds also showed gradual degradability over a period of 7-8 weeks. Water contact angle and water absorption were significantly enhanced for plasma-treated scaffolds, indicating a favorable increase in their hydrophilicity. Scaffolds have also supported hLSCs growth and attachment with no signs of cytotoxicity. We have characterized a nanofiber electrospun plasma-treated PLGA scaffold to investigate the mechanical and biological properties and the ability to support the attachment and maintenance of hLSCs.

The Effect of Visual Impairment and Its Severity on Vision-Related and Health-Related Quality of Life in Jordan: A Comparative Cross-Sectional Study.

Purpose: To assess the effect of visual impairment (VI), its severity, and ocular diseases on vision-related and health-related quality of life (QoL) in Jordan. Patients and Methods: A comparative, cross-sectional, hospital-based study was conducted among a group of 278 patients with VI aged ≥ 18 years, and age and sex-matched control group of 278 individuals with no VI. An interviewer administered the National Eye Institute Visual Function Questionnaire (NEI VFQ-25) and the Medical Outcomes Study 12-Item Short Form Health Survey (SF-12) to all participants. Results: All the mean VFQ-25 subscales scores, physical component scale (PCS) and the mental component scale (MCS) of the SF-12 were significantly lower in patients with VI compared to controls with no VI. The VFQ-25 subscales (except general health and ocular pain), PCS, and MCS scores significantly decreased with more severity of VI. In the adjusted multivariate analysis, lower level of education (p=0.013), male sex (p=0.016), and the presence of cerebrovascular disease (p=0.019) were significantly associated with lower VFQ-25 composite scores in visually impaired patients compared to controls. Ocular disease duration of >5 years and progressive VI were significantly associated with lower VFQ-25 composite scores (p= 0.026 and p<0.001) respectively, in patients with VI. Glaucoma had a significantly larger reduction in mean scores of all the VFQ-25 subscales, and the PCS of the SF-12 compared to all other ocular diseases. Conclusion: Both VI and increasing severity of impairment were associated with reduced vision-related and health-related quality of life in adult Jordanians. Glaucoma patients and less educated people were particularly affected. Routine assessment of QoL in visually impaired patients and improving referral protocols to vision rehabilitation services is recommended to improve the QoL in those patients.

Quality of life and tomography indices in patients with keratoconus.

OBJECTIVE: Keratoconus is a corneal ectasia that leads to thinning and steepening of the corneal surface. We aimed to assess the relationship between quality of life and corneal tomography indices, irrespective of visual acuity. METHODS: This was a cross-sectional study using a translated and validated Keratoconus Outcomes Research Questionnaire (KORQ) in Arabic language. We screened patients with keratoconus using the Belin/Ambrósio D-Index. We included the best-seeing eye in each patient with keratoconus, with a best corrected visual acuity better than 0.5. We collected variables including KORQ scores, flattest meridian keratometry, steepest meridian keratometry, mean keratometry front, maximum simulated keratometry, astigmatism front, Q value front, and thickness at the thinnest location. We performed linear regression analysis to identify predictors of the visual function score and symptom score. RESULTS: Sixty-nine patients were included in this study, 43 (62.3%) male and 26 (37.7%) female patients, with a mean age 34.0 ± 11.50 years. The only predictor for visual function score was sex (ß = 11.64, 95% confidence interval: 3.50-19.78). None of the topographic indices were related to quality of life. CONCLUSION: In this study, quality of life in patients with keratoconus was not related to specific tomography indices and might be related to visual acuity itself.

The Relationship between Pinguecula and Diabetes Mellitus: A Comparative Cross-Sectional Study.

Purpose: To assess the relationship between diabetes mellitus (DM) and the presence of pinguecula and to identify other risk factors associated with pinguecula in patients attending the eye clinic at two tertiary university hospitals in Jordan. Methods: This was a comparative cross-sectional hospital-based study of 241 consecutive patients (122 patients with DM and 119 patients with no diabetes). All patients underwent complete ophthalmic examination, and data were collected regarding age, sex, occupational activity, presence and grade of pinguecula, glycosylated hemoglobin (HbA1c), and presence of diabetic retinopathy. Results: The mean (standard deviation, SD) ages of the DM and non-DM groups were 59.5 (10.8) years and 59.0 (11.6) years (p-value = 0.729), respectively. There was no significant difference in the prevalence of pinguecula between the diabetic and nondiabetic groups (66.4% vs. 66.5%, p = 0.998). Multivariate logistic regression analysis revealed that only outdoor occupational activity (OR = 5.16, 95% CI: 1.98-13.44, p = 0.001) was associated with increased prevalence of pinguecula. DM was not significantly associated with pinguecula (OR = 0.96, 95% confidence interval (CI): 0.55-1.67, p = 0.873). Neither age nor sex were significantly associated with pinguecula (p-value = 0.808, p-value = 0.390), respectively. Conclusion: DM was not significantly associated with the development of pinguecula in this Jordanian population. The prevalence of pinguecula was significantly associated with an outdoor occupational activity.

The impact of having a relative in a need for cornea: the Knowledge, Attitude, and Willingness for Corneal Donation (KAWCD) questionnaire.

Despite the advancement in the field of corneal transplantation, corneal donation is still the only source for cornea. In our study, we aimed to find predictors for a person's willingness toward cornea donation, and the impact of having a relative in a need for cornea transplantation on the willingness to donate cornea. The study included two cohorts to be compared, first degree relatives of patients waiting for corneal transplantation, and general ophthalmology patients who do not have relatives waiting for corneal donation. We designed questionnaire on Knowledge, Attitude, and Willingness for Cornea Donation (KAWCD), a tool specifically designed to measure the knowledge about corneal donation, and the attitude towards it. A total of 269 participants were included in this study, with a mean age of 49.59 (± 17.24) years. We included 182 (67.7%) participants who did not have a relative with or in need for corneal transplantation, and 87 (32.3%) participants who are first degree relatives to patients on the waiting list for corneal transplantation. Upon assessing factors predicting willingness for corneal donation, we found that attitude (p < 0.001; OR 1.126 (95% CI 1.08 to 1.17)) and age (p = 0.022; OR 0.973 (95% CI 0.95 to 0.99)) are the only predictors for willingness to donate. We found that the willingness to donate cornea is related to the attitude, rather than the knowledge about corneal donation. We believe awareness campaigns should focus on encouragement to donate corneas, rather than providing information about it.

Association Between Keratoconus and Shoulder Dislocation: A Cross-Sectional Study.

Introduction Few studies have highlighted the correlation between shoulder dislocation and keratoconus (KC). This study aimed to examine the association between KC and shoulder dislocation using patients with KC and matched controls. Methods This cross-sectional study was conducted at Jordan University Hospital. We included patients diagnosed with KC from Jordan University Hospital's Ophthalmology Department between 2015 and 2018. We also included age- and sex-matched controls recruited randomly from fitness centers and shopping malls. All participants had complete ophthalmic and orthopedic assessments. KC was diagnosed by clinical examination followed by Pentacam (Scheimpflug Images, Oculyzer, WaveLight, Alcon, USA) confirmation. Results A total of 238 patients, with a mean age of 29.53 (±11.20) years, were included in this study. They were 144 (60.5%) men and 94 (39.5%) women. Moreover, 120 (50.4%) had KC while 118 (49.6%) did not have KC. Only 11 (4.6%) patients had previous shoulder dislocation. We did not find a significant difference in the frequency of shoulder dislocation between patients with and without KC (p = 0.512). Conclusion This study provides further evidence on the lack of association between shoulder dislocation and KC, an association that was presumed due to shared collagen characteristics.

Environmental Risk Factors Associated With the Need for Penetrating Keratoplasty in Patients With Keratoconus.

Purpose To identify environmental risk factors associated with the need for penetrating keratoplasty (PKP) (full-thickness corneal transplantation) in patients with keratoconus in a Middle Eastern country. Methods This is a retrospective case-control study. This study included patients with keratoconus who underwent PKPor were waitlisted for PKP. Controls were patients diagnosed with keratoconus who did not reach a stage that necessitates PKP. Groups were matched by age and gender. Chi-square test was used to figure out the association between different risk factors including eye rubbing, vernal keratoconjunctivitis (VKC), smoking, paternal consanguinity, eye dryness, family history, asthma, eczema, and diabetes with the need for PKP. Results A total of 111 patients were included in this study, there were 48 (43.26%) men and 63 (56.75%) women. The case group included 42 subjects and the control group included 69 subjects. We found statistically significant differences between the two groups in relation to eye rubbing (p=0.0005), VKC (p=0.005), paternal consanguinity (p=0.02), and smoking rate (p=0.04), all being significant in the group in need of PKP. On the other hand, we did not find out a statistically significant difference between the two groups in relation to family history (p=0.31), dryness (p=0.58), asthma (p=0.15), eczema (p=0.28), or diabetes (p=0.29). Conclusion This study has identified several risk factors associated with the need for PKP in patients with keratoconus, part of which are modifiable. These findings can benefit clinicians in community counseling and give recommendations that can help in preventing or - at least - delaying the need for PKP surgery in keratoconus, such as smoking cessation, aggressive treatment of VKC disease, eye rubbing avoidance, as well as raising awareness regarding the potential risks of paternal consanguinity in this disease entity.

The relationship between aldose reductase gene C106T polymorphism and the severity of retinopathy in Type 2 diabetic patients: A case-control study.

BACKGROUND: Hyperglycemia over-activates glucose reduction to sorbitol by aldose reductase (ALR) leading to osmoregulation disruption and cellular damage that cause diabetic complications. We investigated the association of C106T polymorphism of ALR2 gene with the severity of diabetic retinopathy (DR) in Jordanian Type 2 diabetic patients in this case-control study at the Ophthalmology clinic of the National Centre of Diabetes, Endocrinology, and Genetics. MATERIALS AND METHODS: A total of 277 subjects participated in the study (100 diabetics without retinopathy, 82 diabetics with retinopathy, and 95 controls). Blood samples were withdrawn followed by DNA extraction. C106T polymorphism was examined by polymerase chain reaction followed by restriction fragment length polymorphism and gel electrophoresis. Statistical analysis was performed by SPSS software using analysis of variance, multiple logistic regression or Chi-square test. RESULTS: The CT and TT genotypes were significantly more prevalent in DR patients than those without DR (CT 50% vs. 38%, TT 16.7% vs. 8%, P = 0.02 and 0.01, respectively). DR patients had T allele more frequently than those without it (41.7% vs. 27%, P = 0.007). Diabetics without retinopathy showed similar genotype and allele frequency to those of nondiabetic controls. No correlation between CT/TT genotypes and the severity of DR in affected subjects was found (χ2: 3.049, P = 0.550). CONCLUSION: C106T polymorphism increased the risk to develop retinopathy in Jordanian Type 2 diabetic patients. T allele of ALR2 was associated with DR. The severity of DR did not show an association with this polymorphism.

Lack of relationship between Alu repetitive elements in angiotensin converting enzyme and the severity of diabetic retinopathy.

BACKGROUND: Angiotensin-converting enzyme (ACE) stimulates angiogenesis that leads to the development of diabetic retinopathy (DR). Alu repetitive elements in ACE gene increase the expression of this enzyme. We investigated the frequency of Alu repetitive elements, insertion/deletion (I/D) polymorphism, in angiotensin-converting enzyme among diabetic retinopathy patients and whether this polymorphism is associated with the severity of retinopathy in Jordanians with type 2 diabetes. METHODS: A total of 277 subjects participated in this case/ control study (100 diabetic patients without DR, 82 diabetic patients with DR, and 95 healthy control). Blood samples were withdrawn, followed by DNA extraction. Alu repetitive elements were examined by polymerase chain reaction followed by gel electrophoresis. RESULTS: The genotype and allele frequencies among diabetic patients, were close to healthy controls (genotypes, II 44.4 vs. 44.7%, ID 44.4 vs. 42.6%, DD 12.2 vs. 12.8%, P = 0.402 and 0.677 respectively, alleles, I 65.6 vs. 66%, D 34.4 vs. 34%, P=0.863). Complicated diabetics with retinopathy showed similar genotype and allele frequency to those without complications. The severity of diabetic retinopathy in affected individuals was not correlated with I/D polymorphism (P=0.862). CONCLUSIONS: We conclude that the presence of Alu repetitive elements did not increase the development or progression risk to retinopathy in Jordanian type 2 diabetic patients. No association between I or D alleles with the severity of DR was detected.

Unique Variant Spectrum in a Jordanian Cohort with Inherited Retinal Dystrophies.

Whole Exome Sequencing (WES) is a powerful approach for detecting sequence variations in the human genome. The aim of this study was to investigate the genetic defects in Jordanian patients with inherited retinal dystrophies (IRDs) using WES. WES was performed on proband patients' DNA samples from 55 Jordanian families. Sanger sequencing was used for validation and segregation analysis of the detected, potential disease-causing variants (DCVs). Thirty-five putatively causative variants (6 novel and 29 known) in 21 IRD-associated genes were identified in 71% of probands (39 of the 55 families). Three families showed phenotypes different from the typically reported clinical findings associated with the causative genes. To our knowledge, this is the largest genetic analysis of IRDs in the Jordanian population to date. Our study also confirms that WES is a powerful tool for the molecular diagnosis of IRDs in large patient cohorts.

Delayed Intravitreal Anti-VEGF Therapy for Patients During the COVID-19 Lockdown: An Ethical Endeavor.

PURPOSE: To assess the impact of Jordanian's Corona Virus Disease (COVID-19) lockdown on visual acuity and macular thickness in patients with macular edema receiving intravitreal injections, and to assess the ethical endeavor of lockdown among serious sight threatening conditions. PATIENTS AND METHODS: This retrospective observational study included patients planned for intravitreal injections who did not complete the planned course before the lockdown (ie, before 20th of March 2020). Data included demographics, indication for the intravitreal injection, corrected distance visual acuity (CDVA), and central macular thickness on Optical Coherence Tomography (OCT) before and after the lockdown. RESULTS: One-hundred and sixty-six eyes of 125 patients were studied, 68 (54.4%) patients were males, and the mean (± standard deviation, SD) age was 64.79 (±9.41) years. Mean (±SD) duration of delay in the planned injection was 60.97 (±24.35) days. The change in visual acuity was statistically significant for patients with diabetic macular edema (p= 0.045 improvement), patients with central retinal vein thrombosis (CRVO) (p= 0.05 deterioration), and patients with age-related macular degeneration (AMD) (p= 0.005 deterioration). Of interest, delay of more than 2 months and the previous need for 3 or more injections were significant poor prognostic factors for visual outcome for patients with diabetic macular edema (p=0.027 and 0.045). CONCLUSION: The impact of delay in the scheduled intravitreal injections resulted in variable outcomes depending on the indication. Triaging the urgency of patients should be based on the indication to support the equity principle of bioethics, where those in need are prioritized against others, depending on potential adverse outcome.

Characteristics of Patients with Pseudoexfoliation Syndrome at a Tertiary Eye Care Center in Jordan: A Retrospective Chart Review.

PURPOSE: To present the clinical profile of patients with pseudoexfoliation (PXF) and describe its association with pseudoexfoliation glaucoma and cataract surgery complications at a university hospital in Jordan. METHODS: Electronic chart search was performed among patients aged ≥ 50 years who attended the Jordan University Hospital between January 2015 and March 2018, to identify patients with pseudoexfoliation. Data derived from history and ophthalmic examination regarding laterality of pseudoexfoliation, presence of glaucoma, glaucoma surgery, cataract, cataract surgery, lens instability, and complications of cataract surgery were collected and analyzed. RESULTS: Of 19,753 patient records searched, 962 (477 male and 485 female) had PXF (4.9%). The mean (SD) age was 71.8 (8.1) years. Pseudoexfoliation was unilateral in 539 patients (56.0%). The mean age of patients with clinically bilateral PXF was significantly higher than those with clinically unilateral PXF (p = 0.001). Pseudoexfoliation glaucoma was present in 237 of 962 (25.4%) patients with PXF and was significantly associated with clinically bilateral PXF (p < 0.001) and male gender (p = 0.001). In 454 (48.9%) patients (638 eyes) who underwent cataract surgery, there was no statistically significant difference in the rate of intraoperative complications between PXF eyes and the fellow eyes of clinically unilateral PXF eyes (p = 0.37), or between patients with clinically unilateral and clinically bilateral PXF (p = 0.78). CONCLUSION: In this large hospital-based study, the frequency of PXF was 4.9%. Glaucoma was present in one fourth of patients and was significantly associated with clinically bilateral PXF and male gender. Cataract surgery complication rates were not statistically different between PXF and the fellow eyes of clinically unilateral PXF eyes. Surgeons need to be aware of the potential increased risk of intraoperative complications in both groups.

Clinical heterogeneity in retinitis pigmentosa caused by variants in RP1 and RLBP1 in five extended consanguineous pedigrees.

Purpose: The aim of this study is to identify disease-causing variants in five consanguineous Jordanian families with a history of autosomal recessive retinitis pigmentosa (RP), and to investigate the clinical variability across the affected individuals. Methods: Exome sequencing (ES) and ophthalmic examinations were performed to classify the underlying RP-causative variants and their pathogenic consequences. The candidate variants in the affected and unaffected family members underwent segregation analyses with Sanger sequencing. Results: We described four variants in the RP1 and RLBP1 genes as disease-causing across the five families, including novel (c.398delC; p.Pro133GlnfsTer126) and recurrent (c.79delA; p.Thr27ProfsTer26) variants in RLBP1 and two previously reported variants in RP1 ((c.1126C>T; p.Arg376Ter) and (c.607G>A; p.Gly203Arg)). The consequent clinical manifestations were thoroughly investigated using a battery of ophthalmic tests, including electroretinography (ERG), optical coherence tomography (OCT), visual acuity (VA), and fundus examination. The phenotypes indicated clinical heterogeneity, typical RP for variants in RP1, and retinitis punctata albescens (RPA) for variants in RLBP1. Conclusions: This study extends the pathogenic variant spectrum for the RP1 and RLBP1 genes. The study also revealed the consequent clinical progression, severity, and presentation of RP. Furthermore, we confirm that ES is an efficient molecular diagnostic approach for RP.

Extending the spectrum of CLRN1- and ABCA4-associated inherited retinal dystrophies caused by novel and recurrent variants using exome sequencing.

BACKGROUND: Inherited retinal dystrophies (IRDs) are characterized by extreme genetic and clinical heterogeneity. There are many genes that are known to cause IRD which makes the identification of the underlying genetic causes quite challenging. And in view of the emergence of therapeutic options, it is essential to combine molecular and clinical data to correctly diagnose IRD patients. In this study, we aimed to identify the disease-causing variants (DCVs) in four consanguineous Jordanian families with IRDs and describe genotype-phenotype correlations. METHODS: Exome sequencing (ES) was employed on the proband patients of each family, followed by segregation analysis of candidate variants in affected and unaffected family members by Sanger sequencing. Simulation analysis was done on one novel CLRN1 variant to characterize its effect on mRNA processing. Clinical evaluation included history, slit-lamp biomicroscopy, and indirect ophthalmoscopy. RESULTS: We identified two novel variants in CLRN1 [(c.433+1G>A) and (c.323T>C, p.Leu108Pro)], and two recurrent variants in ABCA4 [(c.1648G>A, p.Gly550Arg) and (c.5460+1G>A)]. Two families with the same DCV were found to have different phenotypes and another family was shown to have sector RP. Moreover, simulation analysis for the CLRN1 splice donor variant (c.433+1G>A) showed that the variant might affect mRNA processing resulting in the formation of an abnormal receptor. Also, a family that was previously diagnosed with nonsyndromic RP was found to have Usher syndrome based on their genetic assessment and audiometry. CONCLUSION: Our findings extend the spectrum of CLRN1- and ABCA4-associated IRDs and describe new phenotypes for these genes. We also highlighted the importance of combining molecular and clinical data to correctly diagnose IRDs and the utility of simulation analysis to predict the effect of splice donor variants on protein formation and function.

Awareness and knowledge about glaucoma among patients attending outpatient clinics of Jordan University Hospital.

PURPOSE: To evaluate the level of awareness and knowledge about glaucoma among Jordanians and determine the relationship between glaucoma knowledge and selected variables. METHODS: This was a descriptive and cross-sectional study conducted at a central hospital. Face-to-face interviews were performed to obtain sociodemographic data and information about glaucoma from Jordanian participants attending different outpatient clinics of Jordan University Hospital (JUH). A convenient sample of 488 participants aged 16 years and above were recruited. Consent form was signed by each participant before starting the interview. RESULTS: The mean age of the study population was 45.71 ± 15.44 years, ranging 16 to 89 years. There were 163 (33.4%) females and 325 (66.6%) males. 81.6% of participants had heard of glaucoma. Only 34.2% of participants defined glaucoma correctly. 52.4% of participants had a low level of knowledge about glaucoma. The main source of information was from family members, relatives, and friends (66.6%); however, this source inversely influenced the level of knowledge. CONCLUSIONS: The results of this study indicate a high level of awareness of glaucoma among Jordanians but low-to-average knowledge about it. Health education programs should be activated at all levels of health- and eye-care services to increase knowledge about glaucoma and prevent the irreversible loss of vision due to the second main cause of blindness worldwide.

Novel CERKL variant in consanguineous Jordanian pedigrees with inherited retinal dystrophies.

OBJECTIVE: To identify the disease-causing variants in 2 families with autosomal recessive inherited retinal dystrophies (IRDs) and to characterize phenotypic variability across the affected family members. DESIGN: Exome sequencing and ophthalmic clinical examination study. PARTICIPANTS: Six members from 2 consanguineous Jordanian families with IRD. METHODS: Ophthalmic examinations and whole-exome sequencing (WES) were performed to identify IRD-causing variants in affected individuals from each family, followed by segregation analysis of candidate variants in affected and unaffected family members by Sanger sequencing. RESULTS: We identified 2 different homozygous deletion variants in CERKL in each family: a novel pathogenic variant, c.450_451delAT, and a known variant, c.1187_1188delTG. Both variants co-segregated with the disease in all affected family members. The resulting phenotypes further supported that CERKL is associated with cone-rod dystrophy (CRD) rather than retinitis pigmentosa (RP), as originally established. CONCLUSION: Our study expands the genotypic spectra of CERKL variants, providing insights into the relevant pathogenesis of RP/CRD. We also confirm that the WES approach is a valuable tool for the molecular diagnosis of retinopathies.