X-linked Retinoschisis

From WikiGenetics

1 Name of Condition
2 Definition
3 Description, Signs and Symptoms
4 Inheritance
5 Demographics
6 Diagnosis
7 Treatment and Management
8 Prognosis
9 Resources
10 References

[edit] Name of Condition

X-linked Retinoschisis, also known as Juvenile Retinoschisis.

[edit] Definition

Juvenile retinoschisis is an inherited disease, diagnosed in childhood, that causes progressive loss of central and peripheral vision due to a schisis (splitting) of the nerve fiber layer of the retina.

[edit] Description, Signs and Symptoms

Affected males typically have vision of 20/60 to 20/120. Vision often deteriorates during the first and second decades of life but then remains relatively stable until the fifth or sixth decade.

[edit] Inheritance

The RS1 gene on the X chromosome is associated with X-linked Retinoschisis. There are several mutations in the gene that can cause this disorder, and genetic tests are available. Because the gene is carried on the X chromosome, it is almost exclusively expressed in males.

[edit] Demographics

Mutations in the RS1 gene are extremely common among individuals of Finnish descent.

[edit] Diagnosis

Based on vision loss, professionals may look for schisis of the retina. A family history of X-linked Retinoschisis will also be indicative of the disease. Genetic tests and carrier tests are available.

[edit] Treatment and Management

There is no cure for retinoschisis, and it is very difficult to treat with surgery, however, corrective treatments such as glasses may help many individuals. Public schools are required to provide appropriate services to accommodate students with vision impairment, and some individuals with retinoschisis are actually able to receive a driver's license, with vision restrictions. Due to the possibility of retinal detachment, individuals with retinoschisis are advised against playing sports or engaging in activities were head trauma could occur.