Medicine 83
What’s genetic testing for LCA?
If you are considering genetic testing to determine the gene causing your child's LCA, you probably have lots of questions about the test as well as the results. We'll try to answer some of those questions here.
What are Ciliopathies and How are they Related to Blindness?
The source of retinal pathologies like that associated with Joubert's Syndrome may originate in the cilia of cells. Scientists at UC-San Diego report their findings in this Health Sciences update.
Retinal Microchip Trials
A British man with retinitis pigmentosa has test driven the bionic eye, a set of implanted receivers that send impulses through the optic nerve and into the brain. Thirty-five test users are trying out the device worldwide, following a four-hour surgical procedure.
Retinal Implants and Visual Cortex Plasticity
The Boston Retinal Implant Project unveiled a prototype prosthetic for people with retinitis pigmentosa (RP) and macular degeneration. This post links to a New York Times article which also discusses the adaptable nature of the brain and visual cortex.
Tooth Implant Restores Sight
An innovation in lens surgery uses a patient’s tooth to hold an optical lens in place. Within 2 weeks of completing the entire procedure, Martin Jones of England was able to see his wife for the first time.
BrainPort Allows Blind Users to “See” Through Their Tongue
BrainPort Vision is a prosthetic device that uses electrical stimulation of the tongue to provide spatial information to users who are blind or who have vision limited to light perception. Learn more by linking to the BrainPort website.
Gene Reviews: Searchable Database of Genetic Disorders
GeneReviews are expert-authored, peer-reviewed, current disease descriptions that apply genetic testing to the diagnosis, management, and genetic counseling of patients and families with specific inherited conditions.
What’s an ERG?
If you are the parent of a baby or young child who has been tentatively diagnosed with LCA, your doctors probably suggested that your child have an electroretinogram (ERG) in order to confirm the diagnosis. You're probably wondering what the test is like and whether or not you should do it now. We'll explain what the test was like for our family and hopefully this will help you make your own decision.
