Abstract
Purpose – to study the frequency, clinical forms and diagnostic features of congenital hereditary retinal dystrophies among children. Materials and methods The object of the study was the database and statistical reporting forms of the Children's Medical Expert Commission of the National Ophthalmology Centre named after Academician Zarifa Aliyeva for the years 2019-2023. Based on the patients’ family history, a statistical analysis was carried out in 2 main groups: Group A consisted of children born from consanguineous marriages (n=409), while Group B comprised children born from non-consanguineous marriages (n=151). Each group was divided into 3 subgroups according to age categories (0-5, 6-10, 11-15). During the study of children diagnosed with hereditary retinal dystrophy, they were analyzed according to family history, and sex-age characteristics. Mathematical processing of statistical data was carried out using SPSS 26 software. To assess the ocular condition, a range of comprehensive ophthalmological examination methods were used, including electroretinography (ERG). The considered diagnoses were classified according to the ICD-10 nosological groups of eye pathology. Results According to the results of our study, retinal dystrophy was observed in 151 patients (27%) out of 560 children with hereditary eye diseases. Among them, 134 patients (89%) had a family history of consanguineous marriage. The clinical manifestations of these diseases were more pronounced in the 6–10-year age group. Retinitis pigmentosa occurred most frequently in children born from consanguineous marriages. The incidence was higher among boys in both groups. Conclusion Our study revealed that among congenital pathologies in children born from consanguineous marriages, there was a high frequency of retinal dystrophies (32.8%). The results indicate that, in addition to the use of modern diagnostic methods, ERG remains the gold standard for detecting this pathology and identifying its clinical manifestations. Key words: consanguineous marriages, hereditary eye diseases, retinal dystrophies
Published Version
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