This gene provides the instructions for making an important protein that usually removes toxic by-products out of the light-sensing cells in the retina, at the back of the eye.. But when this protein is missing or faulty, these substances build up and form a fatty waste product called lipofuscin, in and around the macula that started to affect my central vision.
When faults in the ABCA4 gene or others are the cause of the condition, I will have inherited one faulty copy of the gene from each parent. My parents will have typically each carried one copy of the faulty gene but they did not have the disease themselves.
My sister seems to be ok thank goodness. She is 2 years younger. I asked my eye specialist on Thursday about her and if she isn\’t presenting problems now then hopefully looks like she got both the good eye genes from our parents. There are 3 possible outcomes. 2 healthy genes, 1 of each and 2 unhealthy genes. The latter is what I now know I received from my parents. One faulty gene from each.
Although having faults in ABCA4 is the most common cause of Macular dystrophy/Stargardts, a minority of people have faults in other genes.
One Vision Blog 