Study of The Molecular Nature of Congenital Cataracts in Patients from The Volga-Ural Region.

ABSTRACT: Hereditary cataracts are characterized by significant clinical and genetic heterogeneity, which can pose challenges for early DNA diagnosis. To comprehensively address this problem, it is essential to investigate the epidemiology of the disease, perform population studies to determine the spectrum and frequencies of mutations in the responsible genes, and examine clinical and genetic correlations. Based on modern concepts, non-syndromic hereditary cataracts are predominantly caused by genetic disease forms associated with mutations in crystallin and connexin genes. Therefore, a comprehensive approach to studying hereditary cataracts is necessary for early diagnosis and improved treatment outcomes. The crystallin (CRYAA, CRYAB, CRYGC, CRYGD, and CRYBA1) an

SUBMITTER: Khidiyatova I 

PROVIDER: S-EPMC10297118 | biostudies-literature | 2023 Jun

REPOSITORIES: biostudies-literature