GENETIC ASPECTS OF FUCHS ENDOTHELIAL DYSTROPHY

Abstract

Fuchs Endothelial Dystrophy (FED) is an inherited corneal disease characterized by progressive degeneration of the corneal endothelium, leading to edema and loss of visual function. Although the exact pathogenesis is not yet fully elucidated, increasing evidence suggests a significant genetic component in susceptibility to DEF. Previous studies have identified several genetic variants associated with the disease, highlighting the complexity of genetic inheritance and the possible interaction between different genetic and environmental factors. Objectives: Investigate the association between specific genetic variations and the predisposition to Fuchs Endothelial Dystrophy (FED), aiming to identify genetic markers that can contribute to early diagnosis and the development of new therapeutic strategies. Methodology: The research was carried out through online access to the National Library of Medicine (MEDLINE), Scientific Electronic Library Online (SCIELO), Latin American and Caribbean Literature in Health Sciences (LILACS) databases in June 2024. Results and Discussions:  Significant associations between specific genetic variants and predisposition to Fuchs Endothelial Dystrophy (FED). In particular, we identified that variants in genes related to the structure and function of the corneal endothelium, such as TCF4 and COL8A2, are strongly associated with the disease. These findings corroborate previous studies and suggest that the integrity of the corneal endothelium may be influenced by specific genetic alterations. Furthermore, analysis of genetic interactions revealed possible networks of genes that can modulate the FED phenotype, highlighting the genetic complexity underlying the disease. These interactions may provide important insights into the molecular mechanisms involved in the pathogenesis of DEF and guide the development of targeted therapies. Conclusion: In summary, this study highlights the importance of genetic variants, especially in genes such as TCF4 and COL8A2, in the predisposition to Fuchs Endothelial Dystrophy (FED). The identification of these genetic markers offers perspectives for the development of more accurate diagnostic strategies and potential targeted therapeutic targets.