X Linked Juvenile Retinoschisis is a hereditary eye disorder that primarily affects males. It is caused by mutations in the RS1 gene located on the X chromosome. As a result, the condition is passed down from mothers who carry the altered gene to their sons. Females who carry the gene mutation usually do not experience severe symptoms but can pass it on to their children. Genetic testing and counseling can help determine the risk of inheriting this condition.
X Linked Juvenile Retinoschisis (XLRS) is a genetic eye disorder that primarily affects males. It is caused by mutations in the RS1 gene, which is located on the X chromosome. As a result, this condition is inherited in an X-linked recessive pattern.
Being X-linked means that the gene responsible for XLRS is located on the X chromosome. Females have two X chromosomes (XX), while males have one X and one Y chromosome (XY). Since males only have one copy of the X chromosome, a mutation in the RS1 gene on their single X chromosome can lead to the development of XLRS.
Hereditary transmission of XLRS occurs as follows:
It is important to note that males cannot pass XLRS to their sons since they pass their Y chromosome to male offspring. However, affected males will pass the mutated X chromosome to all their daughters, who will become carriers.
Genetic testing and counseling are crucial for families with a history of XLRS to understand the risk of inheritance and make informed decisions. Early diagnosis and management can help preserve vision and improve the quality of life for individuals with XLRS.