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• 4 month old son
• Posted: 2010-06-14 19:48:54 By Julianne F
• Hello,
  My dad and uncle are both legally blind from Retinoschisis so I knew what I was getting into when I became pregnant. I did have a son who until now has seemed more than perfect. Just two days ago, right around his four month b-day I noticed a very tiny shake in either just his left eye or in both (can't tell for sure--so slight).
  Question #1: has anyone noticed a correlation between age at onset of nystagmus and severity of retinoschisis?
  Question #2: Can anyone recommend a good pediatric retina specialist or opthamologist in the boston area. Several to choose from not sure who would be best
  Thank you!
  --Julianne

• A few ideas.
• Posted: 2010-06-16 22:19:39 By Michael P
• Julianne,
  
  Thank you for giving this young man a chance at a great life. I know that he will be your treasure.
  
  I have not been able to get a good understanding of nystagmus even though I have is since birth or whenever my parents noticed. It seems to be more related to visual acuity than the CXLRS. However, treating the cysts using Trusopt/Dorzolamide seems to improve visual acuity and seems to help the nystagmus. At this time Dorzolamide drops may improve vision and save damage to the retina. I would call Dr Fishman in Chicago and ask for a recomendation and if treating with Dorzolamide is ok for this age.
  
  I hope that someone will respond with a good doctor in the Boston area. But, you may try visiting a few and determining which one is a good fit and using each for a second opinion. Make sure that the doctor you select is very good a explaining what is going on, explains any treatments and fully explains the risks of any treatment.
  
  At this time there is no cure, only dorzolamide. For me, it has worked to shrink the cysts but not done much for my vision. Please use caution with other experimental treatments. Mike

• RE: a few ideas
• Posted: 2010-06-17 16:20:01 By Julianne F
• Thank you very much for responding!
  He is so very sweet. Everybody has something unique about them. He is very very healthy. Big for his age. Knowing that there was a risk of this disease I ate extremely healthy (vegan, spirulina, hemp, chia, etc etc) and took a lot of DHA to give him the best start in life possible. Also plan to nurse him and eat well and take dha for as long as possible. Interested to see if that will make a difference.
  I will contact dr Fishman. Thank you. I have to go to Gavin's very first Ophthalmologist appoint next tue with a dr johnson from mass eye and ear. Also made an appoint with a retina specialist named dr Mukai at mass eye and ear for late July. I am glad you mentioned getting second opinions and making drs explain everything well. Good advice.
  Do you have any side effects from Dorzolamide?
  Nystagmus just started but primary care didn't even notice it --even after looking at his eyes--until I mentioned it. Did it progress as you got older or did it stay consistent?
  Gavin seems to be seeing normally. Grabbing at very small objects etc. He seems just so perfect. So far so good!
  Thanks --julie

• Hope
• Posted: 2010-06-17 20:27:42 By Michael P
• After I was born I was not able to see the mobile right above my face. This is when my mother got concerned at took to to Dr Michael Michael in Detroit. He diagnosed my with CXLRS and the story began.
  
  I hope when your son is seen he does not have CXLRS and what you are noticing is minor or he has a less severe form of the condition.
  
  Trusopt/dorzolamide is a drug that has been around for a long time. My doctor tells me that the eye drop version is very safe and most of the severe side effect are with the pill version (please renumber that there is no such thing as a safe drug but we take them because the benefit outweighs the risk). Most experience burning just after the drops are applies and a little blurry vision.
  
  from my experience the burning goes away very quickly and is not that uncomfortable. Over time the burning has seemed to lessen. I feel that the drop settles my eye and makes my vision feel better. When I do not take the drops for a few days I seem to notice the the eyes become very jittery and my vision does not feel a good. So, while not detectable by the eye chart I think I see better taking the drops.
  
  The best of luck to you and your son and I am praying for a good report. Let me know what happens.
  
  Mike

• pedi ophtho today
• Posted: 2010-06-22 21:34:55 By Julianne F
• went to ophtho today. She confirmed that our son does have Retinoschisis. She had never seen it before but she said based on her studies of the disease she is sure that is what he has. She is going to talk w retina specialist I already have appoint with and another she works with to see who would be better suited to see our son.
  She said though he does have slight Nystagmus which is an indication he is having some trouble seeing, his eyesight is near perfect right now. Though he is also very farsighted (+6?) She said he must be compensating for it very well. She suggested glasses to deal w farsightedness to give his eyes a break so that he does not get lazy eye from too much strain. I do not want him to have glasses. Going to do some more reading cause also don't want him to get lazy eye (though she was not sure he would).
  Waiting to hear back from her. She seemed rather alarmed when she looked at his eyes. That is what I figured if she had not seen it before. Supposed to look very bad in infancy then flatten out and look better later on.
  Poo poo. Going to start eating a lot more carotenoids that is for certain. Heard about one in Marigold supposed to be essential for eye health.
  Nervous now about causing lazy eye and future detachments from injury. He is already very active.
  --Julie

• Next Steps
• Posted: 2010-06-23 17:13:59 By Michael P
• Too many things to respond to in the last posting. First, and I mean this for the long term it is best that your son is use to glasses and any other tools he may need to help him see and function better. The older he gets the harder it will be to acclimate him to vision aids (glasses, telescopes, hand held monocular, etc.). If he is not use to using vision tools and aids now he may reject them later. This is the case with a number of my cousins who did not wear glasses when they were very young and continued to not use glasses as their vision deteriorated. The good long term skills he learns now the better and using vision aids is critical to his long term success.
  
  Contact the National Eye Institute, the contact name and phone are on earlier posting, regarding genetic testing. Being part of the genetic database may help if there are treatments in the future and will also help to identify the type of CXLRS you son has.
  
  Your Retina Doctor should complete an OCT to map the retina, evaluate any cysts and use as a benchmark if you decide to use dorzolamide.
  
  Consider using dorzolamide...the greatest benefit is with the younger eyes. Read the reports on this board about the use of dorzolamide. A number have reported good success. Almost all report some minor burning but I do not believe there have been bad reports. A few have said they had no improvement or stopped because they did not like the drops.
  
  I like natural treatments, vitamins and minerals and such. However, I recommend caution as it is not know the impact on the eye disease. What may be good for a normal or specific eye condition there is no study for this specific disease and therefore there are nos specific recommendations. My doctor has no problem with normal vitamin and mineral use and I use a nature nulti and omeg3 3 fish oil daily.
  
  Keep us informed. Mike