X-Linked Recessive Juvenile Retinoschisis (RS)


ocular imaging of RS
(Click for a larger view)
photograph of an RS-affected retina
google for more RS images

Retinoschisis causes the layers of the retina to separate from each other, distorting the visual image in such a way that it cannot be corrected with lenses. There is some RS info at the National Organization for Rare Disorders (NORD)

RS is passed from parent to child via a recessive gene on the X chromosome; this is the same way baldness is inherited. This means my son will not have the disease, but my daughter is a carrier, and any son she bears will have a 50% chance of receiving the recessive gene.

There are currently no approved surgical or medical means to repair the tissue damage caused by retinoschisis, although there is some promising experimental work being done on artificial retinas (DoE, MIT and others) and retina transplants.

9/2008: I just learned of an interesting project started at UPMC dealing with ocular regeneration - sounds very cool. Also just noticed there is an RS page on wikipedia. In fact, there has been so much RS-related content added to the web lately, if you search google for "retinoschisis", this page is buried in obscurity, and it used to be in the top ten!

Much research is being targeted at understanding the genetics of the disease. A genetic sequence related to the disease has been identified; it is called XLRS1. The successful identification of XLRS1 has given doctors the ability to test male patients for the presence of the disease, and female patients for carrier status. (more info at genedx.com)

The Kellogg Eye Center at U Michigan is conducting extensive research on the Genetics of Inherited Eye Disease, and they have some RS-specific info too.

RetNet is another site with good information about RS and other retinal disorders.

PubMed has an excellent collection of RS-related articles.

PedBase used to have a decent page on RS, but that link is dead now; you can still see an old version of the page, courtesy of the wayback machine.

There is an email discussion group called RPLIST which covers Retinitis Pigmentosa (RP) and all other types of retina degeneration including RS.

I was diagnosd with RS when I was about ten years old. My vision acuity with glasses is 20/80 in my right eye and 20/200 in my left. With this level of vision, I am unable to drive and have difficulty reading without the aid of magnification. For most of my computer work, I use screen magnification software. All the major platforms that I use -- Linus, Windows, OS X, Android, iOS, and more -- all now offer standard zoom/magnify features designed to help the eyesight-impaired. Accessibility technology has become ubiquitous and mainstream.

Another great resource for people with impaired eyesight is www.lowvision.org.


Last updated 26 Jun 2014
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