Symptoms of RDH11 Gene Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome
The RDH11 gene plays a critical role in the visual cycle and overall development, mutations in which can lead to a complex syndrome characterized by retinal dystrophy, juvenile cataracts, and short stature. Understanding the symptoms associated with this genetic condition is crucial for early diagnosis and management.
Retinal Dystrophy
Retinal dystrophy associated with the RDH11 gene mutation primarily affects the photoreceptor cells in the retina, which are responsible for capturing light and converting it into electrical signals. This dysfunction can lead to symptoms such as:
- Decreased vision at night or in low light conditions (nyctalopia)
- Loss of peripheral vision, leading to tunnel vision
- Progressive loss of central vision over time
- Difficulty with color vision
Juvenile Cataracts
Juvenile cataracts refer to the early onset of lens opacification in the eye, which can significantly impair vision. Symptoms often include:
- Cloudy or blurred vision
- Increased difficulty with vision at night
- Seeing halos around lights
- Frequent changes in prescription glasses or contact lenses
Short Stature
Individuals with mutations in the RDH11 gene may also exhibit a shorter stature than expected for their age and genetic background. This aspect of the syndrome can be evident in early childhood and persist through adulthood.
Genetic Test for RDH11 Gene Mutation
Identifying a mutation in the RDH11 gene is crucial for diagnosing this syndrome. DNA Labs UAE offers a comprehensive genetic test designed to detect mutations in the RDH11 gene. This test is not only pivotal for diagnosis but also for guiding treatment and management strategies for affected individuals and their families.
Test Cost
The cost of the genetic test for the RDH11 gene mutation at DNA Labs UAE is 4400 AED. This investment in health can provide invaluable information for affected individuals and their families, paving the way for a better understanding of the condition and more personalized care plans.
Conclusion
Early diagnosis of RDH11 gene mutation-related syndrome is vital for managing the symptoms and improving the quality of life of affected individuals. With the availability of genetic testing at DNA Labs UAE, families have the resources to gain insights into their genetic health and make informed decisions. For more information about the RDH11 gene retinal dystrophy, juvenile cataracts, and short stature syndrome genetic test, please visit our website.
