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hy do some people with Stargardt's disease not develop symptoms until adulthood
Stargardt disease is the most common inherited monogenic retinal disease, known for its hidden nature and genetic characteristics. Although many patients develop vision problems in adolescence, some patients do not show symptoms until adulthood, which has attracted the attention and research of the medical community.
Genetic Background of Stargardt Disease
Stargardt disease is mainly caused by biallelic variants in the ABCA4 gene and follows an autosomal recessive inheritance pattern. In addition to STGD1, there are some similar diseases such as STGD3 and STGD4, which are related to mutations in other genes and their inheritance pattern is autosomal dominant.
This mutation leads to malfunction of the ATP-binding cassette transporter (ABCA4) involved in the visual light conversion process in the retina, resulting in the accumulation of toxic vitamin A derivatives and causing visual impairment.
Causes of onset in adulthood
Symptoms of Stargardt's disease in adults may result from a variety of factors. First, the diversity of individual genetic combinations can lead to different ages of onset. Some studies suggest that certain gene mutations may not manifest early in life but may be delayed until adulthood.
Different ABCA4 gene combinations may result in significantly different disease pathology and age of onset. Some mutations may affect retinal function but not be obvious in the early stages, with symptoms developing gradually over time.
In addition, environmental factors and lifestyle can also affect a patient's visual health. If individuals reduce their exposure to ultraviolet light or reduce their intake of vitamin A in their diet, the onset of symptoms may be delayed.
Symptoms and their changes
For adults with Stargardt's disease, the main symptoms include blurred vision, blind spots in the visual field, light sensitivity and decreased color recognition. According to reports, these symptoms may begin in early adulthood, but are often not obvious. Over time, patients will gradually feel the loss of vision.
Research and Future Treatments
Currently, research on Stargardt's disease is ongoing. Some potential treatments include gene therapy and stem cell therapy. Although gene therapy has not yet been developed for Stargardt disease, some studies suggest stem cell treatment may help slow vision deterioration or even improve vision.
According to a study, 94.1 percent of Stargardt's disease patients experienced improved or stable vision after using stem cell treatment, raising hopes in the medical community for future treatments.
The patient's quality of life
Although Stargardt disease often results in legal blindness, health and life expectancy are not significantly affected. Many patients are able to maintain a good quality of life after becoming ill, and some late-onset patients are even able to maintain good vision for a long time and continue their daily activities.
SummaryTo date, research on Stargardt's disease and its onset in adulthood continues to deepen. We still don't know why some people develop symptoms in adulthood, and this is a scientific question that deserves further exploration. Perhaps future research will reveal how genes and environment work together to influence the development of this disease, allowing us to better understand and treat Stargardt's disease?
