Blind and Visually Impaired Community
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Juvenile Retinoschisis (self.Blind)
submitted by invictusmith
I have lived with X-Linked Juvenile Retinoschisis my entire life. A few months ago my vision began to deteriorate rapidly. Concerned I went to see a retinalogist, only to be told the same standard line I always get "It is untreatable".
However, I am also a biosciences and Biotechnology student, I know how protein folding works, I know it's caused by a mutation in the RS1 gene, and I know the schesis can be reversed by "saturating" my eye lumen with H+ ion's, "hotwiring" the Na/K pumps in my retina.
Basically, I did my research, had to practically twist the docs arm, finally got a prescription for topical brinzolamide (a Carbon Anhydrase Inhibitor, aka Glacoma medication). And IT WORKED. I have managed to reverse 10 years of schesis in 2 months. So yes, I can confirm, Carbon Anhydrase Inhibitors are an effective treatment for XLJR. However, as a disclaimer, it isn't an absolute guarantee, it is fairly a expensive medication, and I took it at twice the recommended dosage. Again, it is NOT A CURE, but it is an effective treatment.
However, I am also a biosciences and Biotechnology student, I know how protein folding works, I know it's caused by a mutation in the RS1 gene, and I know the schesis can be reversed by "saturating" my eye lumen with H+ ion's, "hotwiring" the Na/K pumps in my retina.
Basically, I did my research, had to practically twist the docs arm, finally got a prescription for topical brinzolamide (a Carbon Anhydrase Inhibitor, aka Glacoma medication). And IT WORKED. I have managed to reverse 10 years of schesis in 2 months. So yes, I can confirm, Carbon Anhydrase Inhibitors are an effective treatment for XLJR. However, as a disclaimer, it isn't an absolute guarantee, it is fairly a expensive medication, and I took it at twice the recommended dosage. Again, it is NOT A CURE, but it is an effective treatment.
invictusmith [OP] 5 points 3y ago
I realize this sounds like medical advice, unfortunately there is no subreddit for XLJR, and there is very little awareness of this condition. Had I not had the knowledge to understand my condition and it's potential treatment, I would have slowly gone blind. My intention is only to provide others with the knowledge that there could *potentially* be other alternatives to giving up and surrending to XLJR. Obviously CONSULT WITH A RETINOLOGIST first.
anunnakicat 1 points 3y ago
Op is this related to retinitis pygmentary?
KillerLag 3 points 3y ago
As you mentioned, it isn't a cure, but there is research that indicates it is helpful. They hope it would help improve the situation enough that it would make gene therapy better (https://iovs.arvojournals.org/article.aspx?articleid=2565694).
Although it is still pretty bleeding edge stuff. Keep in mind too that using glaucoma meds does also increase risks of cataracts.
Although it is still pretty bleeding edge stuff. Keep in mind too that using glaucoma meds does also increase risks of cataracts.
invictusmith [OP] 1 points 3y ago
There is research to indicate the use of certain topical steroids used for Glacoma are related to an increase in cataracts, however Carbon Anhydrase Inhibitors are (to the best if my knowledge) not linked to a higher incidence of cataracts. Oral CAIs have there own nasty side affects (like causing potassium deficiencies), however topical CAIs have very little side affects (aside from dry eye, again, at least to the best of my knowledge)
invictusmith [OP] 3 points 3y ago
The schesis in my eyes should be completely eliminate in a months time, allowing me to have vision correctable to 20/20 or better for the first time in my life
Ok_Seesaw_233 1 points 1y ago
Any updates on your condition? I also have juv retinalschisis and was perscribed diamox (wich is the same as you used)
OldManOnFire 1 points 1y ago
Not to dash your hopes but he hasn't posted anything to Reddit in months.
anunnakicat 1 points 3y ago
Op, is your condition related to retinitis pigmentosa?
KillerLag 2 points 3y ago
No, it is a different eye condition. It's only found in males, and related to a genetic issue. It is closer to macular degeneration than RP.
8i8oio 2 points 3y ago
Are there any studies that it would help macular degeneration?
KillerLag 2 points 3y ago
Not that I am aware of. The two eye conditions are different in cause.
8i8oio 1 points 3y ago
<nods>
Very true..
well, hope springs eternal. Ty
Very true..
well, hope springs eternal. Ty
[deleted] 1 points 3y ago
[deleted]
invictusmith [OP] 1 points 3y ago
No, X-Linked Juvenile Retinoschisis and Retina Pigmentosa are fairly different, both in how they cause blindness and the genes responsible for them. XLJR *technically* can occur in woman, however the likelyhood is extremely remote. Some woman have been shown to have very small schesis (bubbles) in the Retina, when they're carriers, however it's never enough to really effect their vision as it does in males (unfortunately I cannot find link for the article about it at this time)
[deleted] 1 points 3y ago
[deleted]
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