Gene therapy has emerged as a promising treatment for several eye diseases since it may restore vision and stop blindness. Many eye diseases, including retinitis pigmentosa and macular degeneration, have historically been rather difficult to treat and usually cause permanent vision loss. However, thanks to advances in gene therapy, many disorders can now be effectively targeted and genetically changed, providing a safer, more direct, maybe even curative approach. By introducing, altering, or repairing specific genes inside the eye, gene therapy seeks to fix the defective genes causing these disorders, thereby improving general eye health and visual ability. Voretigene neparvovec is one FDA- and EMA-approved treatment for RPE65 mutations. Retinitis pigmentosa, age-related macular degeneration, X-linked retinoschisis, choroideremia, and Stargardt disease are among the several eye disorders still under clinical trials, and experimental treatment is in progress. As research on gene therapy develops, it opens the path for groundbreaking treatments that could fundamentally change the ophthalmic care scene.

This retrospective multicenter cohort study aimed to describe the clinical features and report the outcomes of the management of ocular syphilis in Saudi Arabia. Thirty-three eyes of 19 patients with ocular syphilis were reviewed, including data on visual acuity, signs of anterior and posterior uveitis, systemic work-up, and treatment outcomes. A total of 38 eyes from 19 patients were examined, with 33 eyes showing manifestations of ocular syphilis. The majority of patients (89.5%; n = 17) were males, with an average age of 40.6 ± 12 years. About one half of the patients (52.6%; n = 10) reported previous unprotected sexual encounters, and 26.3% had positive human immunodeficiency virus (HIV) testing. Systemic manifestations of syphilis were observed in 68.4% of the patients. Fourteen patients (73.7%) had bilateral disease. At presentation, the average Log MAR visual acuity was 0.81 ± 0.80 (Snellen equivalent = 20/120). Anterior chamber inflammation was seen in 72.7% of eyes (n = 28 eyes), while posterior segment examination revealed vitritis in 48.5% (n = 18 eyes), hyperemic optic discs in 62.5% (n = 24 eyes), and vascular sheathing in 46.9% (n = 17 eyes). Placoid lesions were observed in 51.5% of eyes (n = 20 eyes). The most common ocular syphilitic phenotypes were acute syphilitic posterior placoid chorioretinitis (ASPPC) in 54.5% of eyes (n = 21 eyes) and necrotizing retinochoroiditis in 15.2% (n = 6 eyes). Treatment included intravenous penicillin G for 14 days in 12 patients, intramuscular penicillin G in 2 patients, and systemic ceftriaxone in 2 patients. All treated patients showed clinical improvement, with a mean follow-up duration of 6.5 ± 4.5 weeks and a significant improvement in mean Log MAR visual acuity to 0.23 ± 0.46 (Snellen equivalent = 20/30; P < 0.001). These findings highlight the emergence of ocular syphilis in Saudi Arabia and the need for ophthalmologists to recognize its diverse clinical and multimodal retinal imaging features to ensure timely diagnosis and treatment.

Autosomal recessive types of both syndromic and non-syndromic inherited myopia are common in Saudi Arabia (SA) because many people marry their relatives. The prevalence of syndromic myopathies in SA, like Stickler syndrome (SS), Knobloch syndrome (KS), and Marfan syndrome (MFS), further complicates the disease spectrum. The causative genes linked to the Knobloch, Marfan, and Pierson syndromes are COL18A1, FBN1, and LAMB2, respectively. Additionally, we found recessive types of non-syndromic high myopia that have a high chance of causing retinal detachment, like those linked to LRPAP1 and LEPREL1. In these cases, regular evaluation and early intervention, including prophylactic laser photocoagulation and pars plana vitrectomy, may improve the outcome. Advancements in genetic testing for diagnosis and prevention accelerate detection, facilitate early interventions, and provide genetic counseling. The utilization of artificial intelligence (AI), machine learning (ML), and the advancement of gene therapy offer promising avenues for personalized care. We place a high value on using genetic knowledge to create a national screening program and patient registry aimed at understanding the national burden of myopia, knowing that we have a high rate of consanguinity, which reflects pathogenic homozygous alleles and founder mutations. This initiative will incorporate genetic counseling and leverage innovative technologies, which are crucial for disease management, early identification, and prevention in Saudi Arabia’s healthcare system.