Introduction: Axenfeld-Rieger syndrome (ARS) is a rare congenital disorder characterized by anterior segment dysgenesis and diverse systemic anomalies. Mutations in genes such as PITX2 and FOXC1 are most commonly implicated in its pathogenesis. The condition significantly affects vision, primarily due to structural disruption of the visual axis and the high incidence of secondary glaucoma. Aim of the study: The purpose of this study is to provide an updated overview of Axenfeld-Rieger syndrome, with emphasis on its historical background, genetic mechanisms, clinical manifestations, and current therapeutic strategies. Research materials and methods: A systematic review of scientific and medical literature was conducted using PubMed and Google Scholar databases. Conclusions: Genetic testing and comprehensive clinical evaluation are crucial for accurate diagnosis and optimal management of ARS. Due to its multisystem nature, care should be coordinated within a multidisciplinary framework. Early recognition of glaucoma and other systemic manifestations is essential to improve long-term outcomes.
Purpose: The purpose of this paper is to present the physiological changes occurring in the human body with increasing altitude and decreasing barometric pressure, and to summarize current knowledge on high-altitude diseases, with particular emphasis on Acute Mountain Sickness (AMS). The article outlines the pathophysiological basis of its clinical manifestations, risk factors, diagnostic criteria, differentiation from other conditions, and methods of prevention and treatment. It also aims to raise awareness of high-altitude risks and promote safe practices during mountain travel. This work is intended as educational material for medical students, health professionals, travellers, and those beginning their high-altitude journeys. Materials and methods: This review paper is based on data obtained from peer-reviewed scientific articles and reports published in reputable databases and journals, including PubMed, Taylor & Francis, CDC, SAGE Journals, ScienceDirect, and Practical Medicine, as well as Modern Management Review, The American Journal of Medicine, PLOS One, and High Altitude Medicine & Biology. The analysis also draws on the official position of the UIAA Medical Commission. Clinical studies, reviews, guidelines, and reports on high-altitude diseases published between 2010 and 2025 in English or Polish were included. Conclusions: Acute mountain sickness arises from inadequate acclimatization to high-altitude hypoxia. Key risk factors include rapid ascent and prior AMS episodes. Gradual acclimatization is the most effective preventive measure, while pharmacological support may aid high-risk individuals. Early symptom recognition and prompt intervention are essential to prevent severe, potentially life-threatening complications, underscoring the importance of understanding human physiological limits and adaptation in extreme environments.
