Whole-exome screening for primary congenital glaucoma in Lebanon.

PURPOSE: Mutations were previously identified in the CYP1B1 gene in six out of 18 Lebanese families (33%) with primary congenital glaucoma (PCG). The purpose of this study is to determine the frequency and type of pathogenic mutations in other genes and compare to other populations using whole-exome sequencing and perform genotype-phenotype correlations. METHODS: Twelve PCG patients previously negative for CYP1B1/MYOC mutations were subjected to whole-exome sequencing. Targeted screening for glaucoma-associated genes was performed. Candidate variants were verified by Sanger sequencing and evaluated in family members for segregation analysis and in 100 normal controls. Clinical correlations were established as to severity of disease presentation, course, and visual outcomes. RESULTS: Six mutations in known PCG-causing genes were identified in five patients: homozygous mutations in CYP1B1 (p.R368G), LTBP2 (p.E1013G), and TEK (p.T693I), and heterozygous mutations in FOXC1 (p.Q92*), TEK (c.3201-1 G>A), ANGPT1 (p.K186N), and CYP1B1 (p.R368G). Two patients, negative for CYP1B1 in the previous study, were revealed positive in the current study, due to different sets of primers and PCR conditions. Potentially damaging variants were noted in several candidate genes. Except for FOXC1 mutations, all genetic variants described here are novel. Intra-ocular pressure and final optic nerve cup-to-disc ratio were highest in the patient with three mutations in LTBP2/TEK/ANGPT1 genes. CONCLUSION: This study provides new data on the spectrum of mutations of PCG in Lebanon. This highlights the genetic heterogeneity of the Lebanese population, noted for high rates of consanguinity in 50% in this cohort. This study emphasizes the importance of whole-exome sequencing in elucidating new candidate genes for PCG in the Lebanese.

Effect of the COVID-19 Lockdown on Myopia Progression of School-aged Children: A Retrospective Chart Review.

PURPOSE: To study the effect of the coronavirus disease 2019 (COVID-19)-related lockdown on myopia progression of school-aged children, comparing across the years and within different age groups. METHODS: This was a retrospective chart review of school-aged children with myopia who presented to the pediatric ophthalmology clinic at the American University of Beirut between January 2020 and December 2021 (during COVID-19 lockdown). Annual myopia progression rate (back to January 2016) was computed by dividing the absolute value of the spherical equivalent (SE) difference of two consecutive visits by the duration (in years). Demographic data were retrieved. Patients were then divided into three age groups (3 to 10, 11 to 14, and 15 to 18 years) for analysis. RESULTS: A total of 443 charts of myopic school-aged children were reviewed. Their average age was 11.81 ± 3.67 years with an average of 3.85 ± 1.67 visits across the years. The mean myopic SE increased over time: SE in 2021 was significantly higher than the mean SE in 2016, 2017, 2018, and 2019. Mean SE in 2020 was significantly higher than that in 2016 and 2017. There was no statistically significant difference in the mean annual progression (in diopters/year). For the 3 to 10 years group, the annual SE progression tended to be highest for 2020-2021 and 2019-2020 compared to previous years. CONCLUSIONS: Children had more myopia in 2021 and 2020 (during lockdown) compared to previous years. The myopia annual progression tended to be highest in 2020-2021, especially for the younger age group, but the difference was not statistically significant. [J Pediatr Ophthalmol Strabismus. 2023;60(5):353-358.].

The Ophthalmology Workload during the Lebanese Crisis and Pandemic.

PURPOSE: The purpose is to to explore the effects of the Lebanese economic crisis on the ophthalmology workload in Lebanon, and the concomitant influence of the COVID-19-related lockdown and Beirut port explosion. METHODS: Data pertaining to all the clinic visits to the Ophthalmology Department at the American University of Beirut Medical Center between January 01, 2019, and December 31, 2021, were extracted. Completed visits to different subspecialties were used to analyze the different parameters. All parameters were compared across the 3 years. RESULTS: We included 102,810 completed visits in this study. A total decrease of 15.3% occurred in visits between 2019 and 2020. The mean number of patients per month decreased significantly between 2019 and 2020 in retina/uveitis and glaucoma/anterior segment clinics. The same trend was observed in pediatric/neuro-ophthalmology and cornea/refractive surgery, although it did not reach statistical significance. For oculoplastics, the workload actually tended to increase from 2019 to 2021. During the pandemic-related lockdown (March, April, and May 2020), the workload decreased by 37.8% in oculoplastics, 63.4% in pediatric/neuro-ophthalmology, 52.8% in retina/uveitis, 60.2% in cornea/refractive surgery, and 50.7% in glaucoma/anterior segment. After the Beirut port explosion in August 2020, an overall decrease of 30.2% was found in the number of patient visits in all sub-specialties, while the number of patients in oculoplastics remained nearly unchanged. CONCLUSION: The ophthalmology workload was strongly affected by the economic crisis in all subspecialties especially with the pandemic in 2020, except for oculoplastics. During the pandemic, the most affected subspecialty was the pediatric/neuroophthalmology, while oculoplastics was the least affected.