The lack of screening programs in Bulgaria is the main reason for late diagnosis of amblyopia. The "Do Good "project provided eye examination of school-aged children aged 6 to 12 years, when amblyopia is curable. This model could be used in establishing a Bulgarian national screening program.

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Cataract is a multifactorial disease with increasing prevalence with age. Adult diabetics develop cataract earlier. Lens epithelial cells (LECs) exposed to oxidative stress (ROS), increased calcium deposit and membrane damage, undergo apoptosis, which results in lens opacification. Remaining LECs post-surgery leads to posterior capsular opacification (PCO). This study's aim was to investigate the physiological characteristics of LECs from cataractous diabetic and nondiabetic lenses. Leader cells migration from age-related cataracts started on day 5-7 and from type-2 diabetics on day 8-10. Differences were found in the collective migratory activity and colony formation. On day 22, the colonies formed by LECs from age-related cataracts were three times more, than those formed by diabetic LECs. DNA synthesis and FOXM1 expression occurred in 55.76% of age-related cataract LECs, but only in 33.45% of diabetic LECs. The highest level of reactive oxygen species (ROS) was found in diabetic LECs. Extracellular matrix calcification followed the same pattern as ROS. Among the main reasons for the development of age-related and diabetic cataracts is lens damage due to ROS release and elevated calcium levels. Diabetic LECs experience significantly lower in vitro migration and proliferative activities, compared to LECs from age-related cataracts. This is the first study of its kind in Bulgaria, contributing to the elucidation of the mechanisms of primary and secondary cataractogenesis in diabetic and nondiabetic adults.

Background Next‐generation sequencing (NGS)‐based method is being used broadly for genetic testing especially for clinically and genetically heterogeneous disorders, such as inherited retinal degenerations (IRDs) but still not routinely used for molecular diagnostics in Bulgaria. Consequently, the purpose of this study was to evaluate the effectiveness of a molecular diagnostic approach, based on targeted NGS for the identification of the disease‐causing mutations in 16 Bulgarian patients with different IRDs. Methods We applied a customized NGS panel, including 125 genes associated with retinal and other eye diseases to the patients with hereditary retinopathies. Results Systematic filtering approach coupled with copy number variation analysis and segregation study lead to the identification of 16 pathogenic and likely pathogenic variants in 12/16 (75%) of IRD patients, 2 of which novel (12.5%): ABCA4‐ c.668delA (p.K223Rfs18) and RР1‐ c.2015dupA (p.K673Efs*25). Mutations in the ABCA4, PRPH2, USH2A, BEST1, RР1, CDHR1 , and RHO genes were detected reaching a diagnostic yield between 42.9% for Retinitis pigmentosa cases and 100% for macular degeneration, Usher syndrome, and cone‐rod dystrophy patients. Conclusion Our results confirm the usefulness of targeted NGS approach based on frequently mutated genes as a comprehensive and successful genetic diagnostic tool for IRDs with significant impact on patients counseling.