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• 2 different diagnosis
• Posted: 2012-10-16 14:30:01 By Fiona M
• Hi
  My husband a former marine and current cancer patient was recently told by the drs at the VA Hospital that he has retinoschisis that is very bad and urgent for him to have some laser surgery. We then went to Mass Eye and Ear and they said he was fine. I don't know what to do - 2 such different diagnosis. I feel like he needs a 3rd opinion - any suggestions?
  thanks
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• recent XLRS published studies
• Posted: 2012-05-15 16:06:06 By Sarah E
• Recently there have been two studies published on XLRS that interest me:
  
  The first study: Most gene replacement therapies utilize a virus vector to "infect" a patient's DNA with the correct copy of a gene. Researchers in Spain have developed a delivery system that does not require the use of a viral vector. They used the technology on a rat model of XLRS with promising results. What is especially exciting is that they found that even topical use could possibly be effective. What if they are able to develop eye drops to correct retinal genetic defects?
  
  See the study abstract here:
  http://www.ncbi.nlm.nih.gov/pubmed/22295905
  
  The second study: Researchers in China compared XLRS patients who have vitrectomies to those who have not. They concluded that "Vitrectomy may be an effective and essential treatment for patients with progressive X-linked retinoschisis to prevent a deterioration of vision before severe complications developed in their eyes." I want to ask my doctors what they think about performing vitrectomies prophylactically. Would performing a vitrectomy before there are complications help preserve vision and prevent future complications? Has anybody else asked their doctors about this?
  
  Study abstract: http://www.ncbi.nlm.nih.gov/pubmed/22541657
  
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• Updates?
• Posted: 2012-04-12 10:34:53 By Billy D
• Anybody hear if the trials ever started? Just curious if there has been an progress.
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• Response to Leandro C,
• Posted: 2012-01-05 08:45:29 By Michael P
• Hi to All,
  Leandro points out, in a post below, an important change in gene testing for XLRS. There has been talk about the mouse testing for a long time and the details are discussed at http://www.nei.nih.gov/intramural/retinalandmaculardegeneration.asp#3 . It is worth a read and the retina pictures are good. I am hopeful for the young men who will benefit from the gene therapy and am also hopeful for my future grandsons because my daughter is a carrier.
  This is exciting news for our small community of those with XLRS and those who support us.
  Copied from the NEI website: “X-linked Retinoschisis (XLRS) Disease
  Dr. Sieving and his group are investigating the molecular pathology of XLRS disease and are working toward developing gene therapy for this disorder. XLRS is the most common form of macular dystrophy in young males; and there is no effective treatment. All affected males have macular changes, and the majority also present changes in the peripheral retina. The natural history is a slow deterioration in central retinal function. XLRS does not cause outright complete blindness unless there are secondary complications such as retinal detachment or vitreous hemorrhage. The causative gene (retinoschisin, RS1) was identified in 1997, and molecular diagnosis and genetic testing are now available through an affiliated lab. XLRS mutations have been correlated with the disease phenotype. A functional hallmark of XLRS is an electronegative ERG with a markedly reduced b-wave.
  Progress in this research includes creation of RS1 null mice [Zeng, 2004] and the characterization of the long-term history of retinal degeneration [Kjellstrom 2007]. They identified synaptic pathology in RS1 knockout mice—which should provide novel insights into the mechanisms underlying RS1 defects [Takada, 2008]. Study showed the effect of retinoschisin deficit during retinal detachment (in collaboration with Dr. Steve Fisher: Luna, 2009); the characterization of a recombinant viral vector (AAV8-RS1promoterhumanRS1 gene) in preparation for clinical gene therapy; and demonstrated structural and functional rescue of photoreceptors by intravitreal RS1 gene transfer in the XLRS mice. Collectively, these studies form the basis for planning translational work toward a phase-1 human clinical trial by intravitreal administration of the human XLRS gene. An exciting part of the research relates to the demonstration that gene therapy can restore normal ERG responses in the mouse model. Although initial work used subretinal injections to deliver the vector, the Sieving lab has now successfully demonstrated that intravitreal injections using AAV2 vectors are equally effective. Moreover after transfection, high levels of retinoschisin protein expression could be demonstrated in photoreceptors—a surprising finding since previous publications, including Dr. Sieving’s own work, have shown that these vectors normally do not penetrate the outer retina in wild type animals. The demonstration that intravitreal administration of vector is effective in XLRS is likely to have major implications for the ease and safety of gene therapy for human ocular disease in the future. The Sieving laboratory has developed a human clinical trial protocol and has had preliminary discussions with the FDA regarding a phase-1 trial of gene replacement therapy.”
  As always be warned of the dangers and risks in participating in any trials, know that thinks “can get worse”.
  MikeP
  
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• scleral buckle
• Posted: 2011-12-15 15:01:43 By Sarah E
• My 6-year-old is scheduled for an evaluation under anesthesia (UA) next week. The doctor needs to do UA because she can't get a good look at his eye otherwise. He has had surgeries w/Dr. Trese in his R eye for retinal detachment and had been seeing 20/400 in that eye, but at his visit yesterday he couldn't even recognize images at 20/600. Our doctor will most likely just get a good look at his eyes while UA, but she told us that if there has been more detachment in the R eye, she may want to do a scleral buckle. Has anybody had any experience with a scleral buckle? He has already had laser surgery and vitrectomy w silicone oil implant.
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• XLRS
• Posted: 2011-11-29 15:28:57 By Steve L
• My son developed XLRS at the age of 2. He is almost 6. He started Kindergarden this year and we had fear that he would have trouble. He is doing fine and Thank God he has been stable for 18 months. You need to find a retina specialist who is familiar with XLRS. What state do you live in? We see Dr. Khaled Tawansy who is based in Los Angeles.
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• Son possibly has X-linked Retinoschisis
• Posted: 2011-11-19 13:47:52 By Lauren T
• Hi, I have a 5 yr old son and were in the VERY beginning stages of Retinoschisis. My son had browns syndrome in his right eye which caused the muscles to constrict his movement. We realized there was an issue when he was about 6 months old. He has VERY poor vision in his right eye and slightly poor vision in his left. At a routine eye check up on Monday the optometrist noticed that his retina is abnormal. We saw a retinal specialist yesterday and he thinks its retinoschisis. He asked if I have any family history of blindness and neither of us thought we did. They want to do an eye exam with him asleep so were waiting to hear when that will take place to get more answers. After talking to family and friends- one of my mothers cousins has a son with x-linked retinoschisis and her other brother has it as well. So apparently it runs in my family and we had no idea. I'm looking into getting genetic testing to confirm I am indeed a carrier. Both of my distant cousins son and brother are now legally blind. So at least I can prepare myself that this is a possibility for my son. I'm looking to talk to people who have gone through this before or who are dealing with the same situation since I can't find a lot online- which is why I joined this site.
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• Possible future treatment for retinoschisis
• Posted: 2011-11-15 07:06:37 By David G
• Hi,
  
  Just thought I would let you all know about this in case your doctors arent telling you. I am seen at Moorefield's hospital in the UK by Prof Moore. During my last visit, I pushed him on the effectiveness of the trusopt drops, which I tried. He said that they have been affective for some people, but only a very few. He did then tell me about a man called Dr Seiving. He works at the National Eye Institute in USA. He has carried out trials on mice of gene therapy that seems to have fixed some issues of the retinoschisis and possibly improved retinal function. He is soon starting human trails so might be worth getting in touch with him. I tried emailing but haven't received a response. http://www.nei.nih.gov/intramural/retinalandmaculardegeneration.asp
  
  Def worth a read and something to keep an eye on. (Pardon the pun).
  
  Also if you are in the UK, might be worth contacting RNIB if you havent already. They offer support for blind and partially sighted people, they even have a youth section where they run activities for children that are affected.
  
  Cheers
  Dave
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• RP
• Posted: 2011-10-03 23:24:02 By Brittany L
• Hi. My name is Brittany and I am 1818 yrs old. I have recently noticed that my eyesight has decreased quite rapidly and suddenly. I was wondering if anyone might have any tips or advice on how to deal withheld this. Thanks.
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• Michael P.
• Posted: 2011-08-22 19:05:18 By James B
• Mike, has your vision improved with Truspot? My son is on Azopt Drops. Also, My son is 13 and wants to get a driving permit next year and his vision may not let him drive. Any advice on how to to tell my son about driving? Jim B.
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• Son just diagnosed
• Posted: 2011-07-20 14:02:12 By Kathy N
• My 8 year old son was just diagnosed with CXLR yesterday. I am freaking out a little and not sure what to expect, what if any steps we should be taking, etc. Any guidance anyone can offer would be greatly appreciated...
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• Doctor not a believer???
• Posted: 2011-07-19 21:32:19 By Michael P
• Hi,
  
  Have your doctor call and talk with Dr Fishman in Chicago. Or, your better choice may be to go to a different doctor.
  
  There are doctors who do not recommend Trusopt, one who is talked about a lot on this board. He does not recommend Trusopt because he is very committed to his own clinical trials on CXLRS.
  
  I do not go to this well know doctor because of this reason. My current doctor is not conducting clinical trials and was amazed by my progress. He is also a school buddy of Dr Fishman and speaks of him well.
  
  All the best. If you read my posts you know that I support the use of Trusopt/Dorzolamide and there is more than enough information to make an informed decision.
  
  MikeP
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• trusopt drops use for XLRS
• Posted: 2011-07-16 15:50:34 By Johnny F
• Please share any success with use of trusopt drops for XLRS. My grandson is 9 years old and his doctor does not recommend the use of the drops because he does not believe that they can benefit XLRS patients. I do not believe that this doctor has treated many XLRS patients, and I fear that he is not aware of the trials showing benefits with use of the drops. Thanks, Ellie
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• trusopt for 7 month old baby
• Posted: 2011-06-16 23:52:57 By Svitlana R
• Hello,did anybody used a trusopt drops on a baby with XLRS?
  How did he tolerated those drops?
  I am so desperate , please Respond ASAP
  Thanks
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• Vision Through Words
• Posted: 2011-05-19 14:27:24 By Stella D
• Vision Through Words is a new blog that posts poetry and short essays written by visually impaired people, but to be read by all. Please go to www.visionthroughwords.com to find out more.
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• silicon oil reinjection
• Posted: 2011-04-08 13:02:48 By
• Hello,
  I have a 5 year old who had previously undergone retinal attachemnt and silicon oil injection. His current doctor told us in the last visit that the schisis that was stable is spreading. So, a silicon injection again to fill it up ( its partially filled now) will keep the layers intact and prevent it from spreading. Is it wise to go ahead with the surgery or stay with the schisis.
  
  Expereiences and suggestions from parents of children similar age welcome. I have read papers that say 'surgery wise less is more for retinoschisis' . I also read some articles on how silicon oil stabilises foveals schisis. Anyone with past experiences where the kids underwent reinjection of silicon oil
  OR
  where kids got their oil removed and schisis remained unaffected
  OR
  where kids had the one surgery and still have the oil in there
  
  PLEASE COMMENT!
  Looking for knowledge to make the right decision.
  
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• Contact Lenses?
• Posted: 2011-02-18 12:55:25 By Richard D
• I'm 30 years old and have had Retinoschisis my entire life. I have no central vision in my right eye, but fortunate to have it in my left eye. I had strabismus with my right eye (lazy eye) and had surgery on it 5 years ago. I'm worried that it is drifting back, I dislike wearing glasses and I was wondering if anyone with Retinoschisis wears contacts? My regular doctor has always said to not do it, but my Retina Specialist says it should be ok. Would like to hear other opinions on this...
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• Glaucoma Drug Improves Vision in People with X-Linked Retinoschisis
• Posted: 2010-12-05 13:37:07 By Michael P
• Glaucoma Drug Improves Vision in People with X-Linked Retinoschisis from http://www.lowvision.com/glaucoma-drug-improves-vision-in-people-with-x-linked-retinoschisis/
  
  Glaucoma Drug Improves Vision in People with X-Linked Retinoschisis
  Fishman notes that additional patients will be studied to better determine the effectiveness of dorzolamide in the treatment of retinoschisis..
  
  By Ben A. Shaberman
  09/18/2006
  
  An FDA-approved drug used to treat glaucoma may help improve retinal health and restore some vision in people with X-linked retinoschisis (XLRS).
  
  In an FFB-funded study conducted by Gerald Fishman, M.D., University of Illinois at Chicago, seven of eight people with XLRS who were treated with the glaucoma drug dorzolamide had improvement in the health of their fovea—a small pit in the center of the retina critical for central and detailed vision. In exams using an eye chart, five of the eight study participants had at least seven letters of improvement in visual acuity in at least one eye.
  
  Fishman notes that five patients reported that “their vision was clearer and that images were distinctly brighter.” He also believes that dorzolamide treatment might slow vision loss in the long run for most patients who had improvement in their foveal health, even if they don’t experience short-run visual acuity improvement.
  
  In the study, patients used two percent dorzolamide eye drops three times daily in each eye. Improvements in foveal health were observed after one to three months of treatment.
  
  Fishman notes that additional patients will be studied to better determine the effectiveness of dorzolamide in the treatment of retinoschisis.
  
  Results of the study were published in the September 2006 issue of the journal Retina.
  
  Retinoschisis is caused by a variation in a gene called RS1, which prevents retinal cells from making the retinoschisin protein, a glue-like substance that holds layers of the retina together. Over time, the condition causes splitting of the inner retina. Some patients may develop a retinal detachment or vitreal hemorrhage, which can cause substantial vision loss. Retinoschisis is an X-linked disease and therefore only affects males, and is passed down to them by their mothers who are unaffected (i.e., they are carriers). The disease is usually first diagnosed in boys between five and 10 years of age.
  
  Mike P
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• 6 yr. old son with cxlr
• Posted: 2010-10-20 22:35:55 By Jen C
• Hello, my name is jenny and I am trying to get involved with other parents whose child has been affected by cxlr. My son is 6 yrs. old and we first noticed something was wrong at 6 months old. His eyes started moving around crazy. Nystagmus.. We then started going to drs. We started at Vanderbilt Children's Hospital then they sent us to William Beaumont in Royal Oak Michigan for surgery to tack down the good part of his retinas that were left. The surgeries were a success. He even got a little center vision back in both eyes. Since then we follow up at Vanderbilt with a wonderful dr. Dr. Franco Recchia. He has taken such good care of Dylan. Dylan has 20/200 in left and 5/200 in right.He does very well in school. Straight a's. He has really adapted well for his sight to be so bad. We have an IEP and he has wonderful teachers who make sure he is reaching his full potential. I have been very curious about all the research. The stem cell and the adenovirus research. Does anyone know more about these studies. I have a fear of him going completely blind but I know God will be with us. Dylan has such a wonderful personality he doesn't let anything get him down. He plays his DSI and is very good at it. He is a true joy in my life. I'm still waiting on DNA results telling me if I am the carrier. There is noone else in my family with this disease so this was a slap in the face. I would really just like to talk or chat with other parents with the same problem as Dylan's. My email is jenny.cansler@hotmail.com Thank you, Jenny
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• need shooling advice
• Posted: 2010-08-19 13:26:08 By Narayani V
• Hello,
  My son 4.5 years has XLRS and undergone surgery for detachment. His current vision is 20/90 in the left eye and 20/200 in the right eye.
  He will be mainstreamed in a public school here in the state of Washington.
  what kind of facilities should I look for in the school. Should the school have overhead projectors so that he can see everything in the computer?
  any advice from parents of similar age and details on what they provide for their kids to cope up with the rest of class will be hihgly useful for me. should I choose a small school with dedicated teachers and a community feeling or a large school with more high-tech devices?
  
  thank you all,
  Mom
  
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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
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• kids taking acetazolomide pills
• Posted: 2010-05-06 01:55:08 By Barrie B
• My ten year old son has a severe impairment from retinoschisis. One doctor is recommending a high dose of the pill form of acetazolamide, also known as methalzolomide and other names. Some people report using the drop form with good effects.
  Has anyone used the pill or drop form with good effects on a child, or on a child or adult with serious visual acuity / schisis cavity problems? Are there side effects you've experienced?
  Thank you,
  Barrie
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• For all the XLRS patients that may be interested
• Posted: 2010-02-11 12:26:05 By alexis m
• Good morning,
  
  I currently work in the Bascom Palmer Eye Institute. We are currently offering a study to all of the XLRS patients and some of their family members. This requires a whole day visit in the Bascom Palmer in order to obtain all exams and use a different tecnique with the OCT. Blood samples are also taken in order to do a genetic testing that can help toward the future. If you or any family member you may have is interested and wants more information please email me at amorante@med.miami.edu.
  
  Thank you
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• Will Trusopt drops help my husband?
• Posted: 2009-12-07 12:25:06 By zing t
• My husband is below 35 yrs old and has XLRS. As a result he has low vision. Although by god's grace he is doing well in his career, he has some problems that prevent him from doing better.
  For example he cant see the computer screen until he is siting or standing very near to it. Thus discussions with colleagues are very difficult to handle as he cant see very well whats being talked about and has to rely on guesswork and memory to make sense of what is going on
  
  same story in meeting rooms as projectors are used almost invariably in every meeting.he cant see the small text on the screen esp when details are being discussed although he is quite fine with power points as they hv typically very large fonts.
  
  because of all this supervising others work and adding value in high level meetings becomes very tough for him and he almost cries to himself everyday. He has a tremendous amount of feedback to give and value to add but for lack of vision he cant do it and has to simply sit silent in the meetings so as not to expose his weakness.
  
  I am writing this long post to
  1. check if anyone has encountered such situation before and is there a way out
  
  2. Can Trusopt drops help some one as old as him. Even if his vision improves by one line it will be v significant for him.
  
  Currently he can read upto three lines with one eye and two lines with the other with glasses.
  
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• Retinoschisis
• Posted: 2009-12-03 12:08:46 By Sonia M
• can anyone recommend a specialist in NY. My cousin lives in Oceanside NY and her son was just diagnosed with Schisis and she is looking for a specialist that can help her with treatment and visits. Thank you!
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• XLRS Human Study
• Posted: 2009-10-28 15:29:31 By Sarah E
• The Applied Genetic Technologies Corporation(AGTC) website has a news release regarding FFB-funded clinical trial that is planned for retinoschisis gene therapy:
  http://www.agtc.com/news/news_agtc_063009_collaborations.htm
  
  I emailed AGTC to ask them questions about when the study is scheduled, what ages would be included, finding participants, etc. They sent me back this information:
  
  (9/30/09)
  (BEGINNING of email response)
  1.The clinical trial will not begin until at least 3 years from now. We still need to do a variety of testing in animals (part of which is funded by the FFB), scale up the production process so we can make enough for a clinical trial, and complete other activities required by the FDA before we can begin a clinical trial.
  
  2. We haven’t decide for sure what the ages of study participants will be. In general, we begin studies in individuals >18 years of age and then later, after we have shown that the treatment is safe in older individuals, study the treatment in younger individuals.
  
  3. We will identify possible participants by a number of methods – from the practices of the doctors who will be investigators in the clinical trial, by announcements on the FFB website and other websites, and by sending letters to patients on a list maintained by the FFB.
  
  4. XLRS will have to be genetically verified to participate in the clinical trial. However, most people with XLRS have a typical clinical presentation, and those with a clinical diagnosis who are interested in being considered for the clinical trial can be genetically tested through one of the clinical trial sites.
  
  5. Participants will have to travel to one of the clinical trial sites to participate in the study – but we have not yet identified where those sites will be. The sites that were listed in the news release are the sites where the testing in animals that is funded by the FFB will be done.
  
  Thank you for your interest in our program. We are enthusiastic about this project. We recognize that everything takes longer than we would hope, but we need to make sure that we do everything correctly so that people who enroll in the trial have the best chance for a successful outcome.
  
  (END of email response)
  
  It is exciting to see that human studies are in the works, though it is hard to be patient and wait at least three years. I hope that the amazing success from the recent LCA studies will speed things up.
  
  Thanks,
  Sarah E.
  
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• My boy
• Posted: 2009-10-20 19:02:00 By Waleska S
• Well my story is the same as a lot of the other messages I have been reading. I cry every time I read each one. My beautiful boy was two when we found out he had retinal schisis. He had the erg done just a few after we foung out and started on the drops soon after that. The drops, we did them for one month. I do have to say my son hated them and at times we would skip them We did tell the retianl doctor that and he came to the conclision that their was no change and he took him off of them. We will try when he is older and he can decide for him self if he see a difference with them. When we found out about our two years old diagnisis when we where pregnet with another boy on the way. He was born in Agust of 08 and when he was six months old when we took his blood and his older brothers blood and sent it to mrs. Metzler at th University of Maryland. Their they did a DNA work up to look for the mutation and my older son came back positive and our baby boy was negative for the mutation. I had made peace with my self and was ready for both my boys to have the same diagnisis but I won't lie I am glad that I only we have only one with the schisis. I still and I guess will always have nightmare about his future. He started prek-3 and the district wanted him to ride the bus I was not ready for that. In the Agust publicaton from the FFB they had info on gene therapy that was sucessful on rats. They were going to start clinical on adults to see it the gene therepy would work on them. I have a question for any one that can help I have a hard time understanding what my son sees. He just turned four and hates his glasses he tells me he gets a head ache and will take them off. Any suggestions or comments?
  
  Johanna
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• Retinoschisis
• Posted: 2009-09-22 21:29:01 By Lucia D
• My son is 9yrs old and was diagnosed with retinoschisis at Bascom Palmer (Dr. Berrocal). He tried the Trusopt drops for about 3 months but his vision didn't improve. He also reported increased burning in his eyes when the drops were applied. He was just recently started on Neptazane (oral medication). He had a follow-up with the retinal specialist after 1 month of taking the medication and his vision improved from 20/80 to 20/40 on his right eye and 20/70 on the other eye. He is still taking the medication and I'm scheduled to go back in December 2009.
  How is your son's vision now. Has he had any hemmorage or retinal detachments?
  Good luck with everything.
  
  Lucia
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• im frustrated!!!
• Posted: 2009-08-11 22:39:32 By
• ok i need you advise...
  My 8 yr old son has been diagnosed with xlrs for just over 2 years now. We were going to Bascom Palmer Eye institute in miami which was wonderful. We recently moved to Omaha Nebraska. My specialist in miami wanted him to go all the way to Iowa city to a specialist there. She wanted him to try the Trusopt drops but couldnt put him on since we were moving and she couldnt follow his OCT's. Insurance of course doesnt cover them. I saw a local retinal dr yesterday and he doesnt believe in the Trusopt drops. Do you think they really can work?? i will pay out of pocket to go if that is what he needs. I dont think his local dr deals much with XLRS by the sounds of it...so frustrating!! He has had recurrent vitreous hemmhorages and no longer plays baseball as he can see the ball till it gets right in front of him...if eye drops can help some, even just peripheral, i would love to know. Ive done all i can with limiting sports, he is in the study through NIH/NEI they did the genetic tests for us, but now im stuck in nebraska with no resources here???? Any input?
  thanks so much
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• xlrs retinoschisis
• Posted: 2009-08-11 07:49:40 By steve l
• my 3 year son was diagnosed with xlrs a year ago and has had multiple surgeries due to the disease. he has had retinal detachements, angiograms, and a silicone oil implant. as of last week, he has started azopt. we are seeing a pediatric retinal specialist in los angeles. xlrs is his specialty. feel free to email me. i hope we can help each other.
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