2024, Volume 30, Issue 3
INFLUENCE OF POLYMORPHISMS OF GENES AND VARIABLE EXPRESSION ON CONNECTIVE TISSUE-RELATED OPHTHALMIC DISORDERS
GRZEGORZ ROTUSKI1, KATARZYNA KOMAR2, ALEKSANDRA PRZYBYSZ3, EWELINA MACULEWICZ2
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1Department of Ophthalmology, Military Institute of Aviation Medicine
2Department of Biomedical Research and Human Performance Optimization, Military Institute of Aviation Medicine
3Department of Biomedical Sciences, Józef Piłsudski University of Physical Education in Warsaw
Autor korenspondencyjny: GRZEGORZ ROTUSKI; Department of Ophthalmology, Military Institute of Aviation Medicine
Streszczenie
Introduction: Connective tissue disorders are impacting ocular health – they can be either congenital in the case of genetic syndromes or acquired when it comes to autoimmune diseases. However, some gene polymorphisms and their variable expression in individuals can cause more discrete features leading to an increased risk of ophthalmic diseases developing progressively with aging. Collagen is the main component of the extracellular matrix, but various types with different biochemical properties are present within the eye and other constituents that interact with each other upon receiving gene-mediated signalling instructions.
Methods: A literature review was performed across online databases to synthesize current knowledge from the last 10 years on genetic mutations leading to connective tissue disorders that affect ophthalmic pathology. Various combinations of keywords and Medical Subject Headings were used.
Results: A total of 312 papers were collected using the above search criteria, among which 87 were judged relevant to the topic. The interest in ophthalmic genetics appears to be significantly increasing in recent years.
Discussion: The findings suggest that the relationships between genetics, ophthalmic diseases, and connective tissue disorders remain difficult to understand, despite the identification of multiple loci involved in the disease cascade, including variants of unknown significance. The growing evidence that our diet, lifestyle, and environment affect our genetic predispositions to diseases contradicts the idea that these factors are unmodifiable.
Conclusion: The review highlights that genetic and environmental interactions underpin many ophthalmic connective tissue disorders, underscoring the need for integrative genomic and clinical research.
Słowa kluczowe
glaucoma, myopia, keratoconus, ophthalmic genetics, collagen, connective tissue, extracellular matrix, aviation pilots