I am traveling to see an eye specialist this week. As a result, I am not certain what my posting schedule will be during that time. I hope to be back on a regular schedule by the end of the week.
In the spirit of raising awareness, I have an eye disorder called Choroideremia (CHM) which is slowly but surely leading me down the path of blindness.
What is Choroideremia?
Choroideremia (/kɒˌrɔɪdɪˈriːmiə/; CHM) is a rare, X-linked recessive form of hereditary retinal degeneration that affects roughly 1 in 50,000 males. The disease causes a gradual loss of vision, starting with childhood night blindness, followed by peripheral vision loss and progressing to loss of central vision later in life. Progression continues throughout the individual’s life, but both the rate of change and the degree of visual loss are variable among those affected, even within the same family.
Choroideremia is caused by a loss-of-function mutation in the CHM gene which encodes Rab escort protein 1 (REP1), a protein involved in lipid modification of Rab proteins. While the complete mechanism of disease is not fully understood, the lack of a functional protein in the retina results in cell death and the gradual deterioration of the retinal pigment epithelium (RPE), photoreceptors and the choroid.
As of 2019, there is no treatment for choroideremia; however, retinal gene therapy clinical trials have demonstrated a possible treatment.
The good news is that science is getting closer to finding a solution to what ails me, whether that be in a few years or in ten to twenty. I have always kind of hoped eventually to have a robotic eye with a kind of Terminatoreque red light in it. A zoom in function, text file uploads about what I’m looking at, etc., would be very fun. But I’d settle for some gene therapy breakthroughs, too.
Some or maybe all of that should happen at the current rate of advancement within my lifetime… provided we do not set civilization back a few decades / centuries with a nuclear war or something. But what are the odds of that?