The prevalence of X-linked juvenile retinoschisis is estimated to be approximately 1 in 5,000 to 1 in 25,000 individuals worldwide.
This condition primarily affects males, as it is caused by mutations in the RS1 gene located on the X chromosome.
X-linked juvenile retinoschisis is characterized by abnormal splitting of the layers of the retina, leading to impaired vision and potential vision loss.
Early diagnosis and management are crucial in preserving vision and preventing complications.
X Linked Juvenile Retinoschisis (XLRS) is a genetic eye disorder that primarily affects males. It is estimated to have a prevalence of approximately 1 in 5,000 to 1 in 25,000 individuals worldwide. XLRS is characterized by abnormal splitting of the layers of the retina, leading to impaired vision and potential vision loss.
The condition is caused by mutations in the RS1 gene, which is located on the X chromosome. Since males have only one X chromosome, a single copy of the mutated gene can result in the development of XLRS. Females, on the other hand, have two X chromosomes, so they are typically carriers of the gene mutation and may have milder symptoms or be asymptomatic.
XLRS often manifests in childhood, with symptoms such as reduced visual acuity, difficulty seeing in bright light, and abnormal eye movements. Regular eye examinations and genetic testing can aid in diagnosing the condition. While there is currently no cure for XLRS, supportive treatments such as corrective lenses and low-vision aids can help manage the symptoms and improve quality of life for affected individuals.