Introduction: Primary congenital glaucoma is a rare but serious genetic disorder that affects newborns and young children. Due to abnormal development of ocular structures, intraocular pressure increases and, if not terated early, leads to irreversible damage or vision loss. As one of the leading causes of childhood blindness, this disease poses a major challenge for ophthalmology and pediatrics and has a profound impact on the quality of life od affected children and their families.
Aim: The aim of this thesis was to use bioinformatic tools to identify key genes and protein targets associated with the development of primary congenital glaukoma and to evaluate the potential for their modulation with already approved drugs.
Methods: The analysis included Open Targets Platform, OMIM, GeneCards, ENSEMBL and TxGNN Explorer, and the results were additionally manually evaluated in terms of therapeutic applicability.
Results: The most relevant identified genes associated with primary congenital glaucoma were CYP1B1, LTBP2, MYOC, TEK and OPTN. Among them, TEK emerged as the most promising target, although currently associated only with drugs developed for oncological indications. LTBP2 also appeared as an interesting candidate, where hypothetical associations, despite limited evidence, suggested potentially promising therapeutic approaches.
Conclusion: Primary congenital glaucoma is a complex condition in which phenotypic variability and limited research hinder the understanding of molecular mechanisms and the development of pharmacotherapy. The application of bioinformatics approaches enabled the identification of importatnt genes and highlighted opportunities for drug repurposing, providing a basis for new research hypotheses and future therapeutic strategies.
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