Epidemiological Characteristics of Hereditary Diseases of the Visual Organ in Surkhandarya Region

Hereditary diseases of the visual organ represent a significant medical and social problem, especially in regions such as the Surkhandarya region of Uzbekistan, where access to specialized ophthalmological care is limited. Failure to detect these pathologies promptly leads to progressive vision loss and patient disability. This study aimed to determine the prevalence and the actual detection rate of hereditary eye diseases in the Surkhandarya region. A retrospective epidemiological study was conducted based on data from the Termez branch of the Republican Specialized Scientific and Practical Medical Center of Eye Microsurgery. Outpatient medical records, hospital discharge summaries, and ophthalmological examination reports of patients for the period 2022–2024 were analyzed. The assessment included nosological forms, sex, age, place of residence, and family history. A significant discrepancy was identified between the expected and the actual number of hereditary diseases of the visual organ. The greatest mismatch was observed in retinitis pigmentosa and hereditary retinal dystrophies. For all nosological forms, the detection rate was significantly lower than expected values, indicating substantial underdiagnosis of these conditions in the region. The obtained results emphasize the need to improve early detection systems for hereditary eye diseases in the Surkhandarya region, enhance physician training, and expand access to ophthalmological care.