This disease manifests itself in the cloudy lens, less sharp vision and severely affects life quality causing among others difficulties in reading. Cataract which can lead to complete loss of vision more frequently affects individuals over the age of 60. However, the number of younger patients is also pessimistic.
The International Centre for Translational Eye Research, ICTER conducts intense research in a field of eye diseases. Among them there is cataracts, which according to the recent WHO report (World report on vision; https://www.who.int/news-room/fact-sheets/detail/blindness-and-visual-impairment, published in 2019) affects 65.2 million people globally. In #Poland, the number of patients is also alarmingly high – exceeding 800,000. In 2019 only there were more than 300,000 cataract removal surgeries.
Cataract can be categorized by its age-at-onset: congenital (or infantile) developed within the first year of life; juvenile within the first decade of life; presenile before the age of 45 years; and senile (or age-related) thereafter.
The factors predisposing to cataract pathogenesis include: age, heavy alcohol use, smoking, obesity, high blood pressure, previous eye injuries a family history of cataracts, extensive exposure to UV (sun), diabetes, and to radiation from X-rays and cancer treatments.
In addition to environmental or life-style related factors, there are numerous mutations found to be connected with cataract pathogenesis. In approximately 10% of mapped loci there were no causative gene identified. About 50% are mutations in genes encoding lens crystallins, 10% in transcription factors, 15% in connexins, 5% each in intermediate filaments or aquaporin 0, and 10% in a variety of other genes [doi: 10.1111/cge.12182]. Inheritance of particular mutation in different families or even within the same family can lead to radically different cataract phenotype (morphologies and severities), which indicates that additional genetic or environmental factors might be involved in progression of disease [doi: 10.1111/cge.12182].
The only effective treatment for cataract is surgery. In most cases it is recommended when disease begins to affect quality of life or interfere with an ability to perform normal daily activities. As in every diseases, regular medical controls and self-discipline of patients are crucial in proper management of treatment including timing of cataract surgery.
We believe that the results of the everyday work of scientists in ICTER will help many people around the world. Thanks to the interdisciplinary character of our team we do our best to construct new diagnostic tools, modern surgical instruments, search for new pharmacological and gene therapies, discover connections between cells of the visual tract and finally search for unknown molecular mechanisms of pathogenesis.
*Among people suffering from cataract there were many famous individuals including French painter and founder of impressionist painting, Claude Monet (1840–1926;) or living in our time John Goodman, an Academy Award winning actor.
Author of the text: dr Magdalena Banach-Orłowska, Coordinator of the Computational Genomics Group.