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Hereditary Retinal Degeneration


The retina is a complex arrangement of nerve cells that have the ability to capture light and record the image which is then transmitted to the brain. Because of all the complex functions it performs, the retina relies on a wide variety of genes to carry out its tasks. Should any one of these genes be lost or mutated, it can have a severe impact on vision. There are a number of conditions which result from single gene defects such as retinitis pigmentosa, Stargardt's disease, Norries disease, X-linked retinoschisis, and many others.

The diagnosis of a hereditary retinal disease is usually based on the clinical findings in conjunction with specialized testing such as electroretinogram (ERG). In addition, it is now possible to send a blood sample to be genetically tested for possible mutations. Having a confirmation of the gene defect may be helpful in the future as new therapies become available.

Click here for eye diagram.