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This is also called “enhanced s-cone” or “blue cone” syndrome. It is an autosomal recessive mutation where you get excessive s-cones at the expense of other photoreceptor subtypes. Because of this, patients have an increased sensitivity to blue light, night blindness, and some pigmentary retinal degeneration. On exam, you can see macular schisis that looks like CME or juvenile x-linked retinoschisis that doesn’t leak on FA. Supposedly, you can also see an empty vitreous and changes on ERG.
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ID: 142 , Updated: May 17, 2008
Tags: blue cone, cystoid macular edema, enhanced s-cone syndrome, Goldman-Favre syndrome, juvenile x-linked retinoschisis, macular schisis, optically empty vitreous, s-cone syndrome
Difficulty:    ( 4 votes, average: 2.5 out of 5) |
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Comments and Feedback
16 Comments
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My nephew has recently been diagnosed with Goldman Favre Syndrome. He is 22 years old and is in good health otherwise. Could you please tell me what causes this and will he completely loose his sight, and how long until he’s blind? Are there any medications that will at least slow the progression down? Thank you for your time and input. Sincerely, Janice Lloyd
Comment by Janice Lloyd — September 7, 2008 @ 1:20 am
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It might be a bit late but I hope this helps:
My girlfriend has this syndrome and every time she goes to her eye doctor (about once a year) he tells her that her vision hasn’t gotten any worse, which is how it usually is with people with Goldman-Favre Syndrome.
Like I said “usually” but that’s all I know.
Sincerly,
L.
Comment by Liran — April 10, 2009 @ 8:21 pm
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Hi Janice, I just notice that you posted the question 2 years ago. Anyway I thought I share this:
I am 35yo and have been diagnosed with Goldman favre syndrome 8 years ago, since then I check my eyes every year and the doctor said that it doesn’t change so now he told me to come every 2 years. They still don’t know what cause it, just genetic thats what I know. So far there is no cure so I just keep praying that it doesn’t get worse. Hope your nephew’s eyes doesn’t get worse either.
Comment by Nini — July 10, 2010 @ 8:38 am
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Can someone share what symptoms they have with their GF? Also is there any forum or mailing list for people with GF?
Comment by John P — March 27, 2011 @ 8:42 pm
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Hi I’m 56. this condition really manifested itself when I was Approx. 36. I had rapid vision loss, then I received two new lenses. Now I see very well. I still have the eye disease and can’t drive but hey I can see. Upon my last visit my doc said my vision hasn’t changed in a long time. It’s hereditary. It’s life. Some people get worst things, so look at what you have not what you could have. Just an opinion.
Comment by Virgil — March 29, 2011 @ 8:55 am
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I’m 22 years old and I was diagnosed at the age of 15. I too have this disease. Since I was a kid I had night blindness. I lost central vision in my left eye since I found out at 15 years old. I still have peripheral vision though. I never noticed it until I went to the eye doctor. I have a big schisis cavity in the left eye. The other better eye takes over and you never notice. My right eye has been the same roughly since then. I see 20/25 because I have cataracts as well. I can’t enjoy 3d stuff but I am just happy it has not gotten worse to the point I can’t see at all. I pray for a cure every day so no one else has to endure this disease. I wish everyone the best of luck.
Comment by sean — April 10, 2011 @ 10:36 pm
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my son was diagnosed with GFS when he was 5 years old. now he is 14 years and seems his vision remains the same. I hope to find some information regarding new researches and treatments for this condition. If anyone knows the new findings, could you share with us? Thanks a lot.
Comment by Nancy — June 19, 2014 @ 1:53 pm
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Hi Nancy,
My daughter is also diagnosed with GFS and she is now 8 years old. She can’t see well when in a dark room. and her vision currently is 20/50 in both eyes. Does your son also has problems with his night vision. Just curious to know how GFS prognosis….
appreciate your response.
Thanks,
Mallik
Comment by Mallik — July 6, 2015 @ 1:26 pm
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Hi my daughter are 3 years old and diagnosed with gldman favre. She have in her right eye scars in a circle around and far from the macula. Her sight in that eye well. But in left eye she have retina scars and edema that have a little bit liquid… she can see with left eye, but not properly because she have the edema very close to the macula. She have glasses with # +7 and it seems she see very good. When i got the news about the genetic disorder i cant breath, i cand eat, can do nothing! and the doctors are only making me more stressed and saying it will only be worse and they don’t know how and what…. Please help me, tell me how it happened with you over the years. Do you also have scars in the retina? Help my heart please!!!!!!!
Comment by Shiran — September 7, 2017 @ 1:54 am
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Anyone available to post an update? As these were from multiple years ago.
Comment by Jeremy — January 15, 2018 @ 5:16 pm
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Hi Shiran, my daughter has foveal schesis which I think is same as ’scars’. my daughter is 10y old now and her night vision is poor. how is your daughter night vision , is it normal?. and can you let me know if you are from India and if so, which hospital/doctor is treating your daughter. I would probaby need to switch my doctor.
Comment by Mallik — January 16, 2018 @ 1:08 pm
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Hi mallik im from israel. My daughter have normal night vision, but she have problems to see when she’s in a very dark room. Dif your daughter have eye glasses? In the day time she see good? Did you see a change in her vision by the years? Thank u! Shiran
Comment by Shiran — January 31, 2018 @ 8:33 am
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Hi Shiran, My daughter has the same problem when she is in dark room other wise her night vision is ok. I think that is the common problem in goldman syndrom. she wear glasses and her vision is 20/50 in both eyes currently. we dont see any change in her vision in last 3 years.
Comment by Mallik — January 31, 2018 @ 9:17 am
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Thank you for answering!!!! Can we keep in touch? Can you write me to my email? Shiran872@gmail.com
❤️
Comment by Shiran — February 1, 2018 @ 9:04 am
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I was diagnosed with GFS at 18 yrs.old.(20/40 at that time (1967).I led a normal lifestyle and worked in construction until I was 45 yrs.old(1994) and went on SSDI (declared legally blind).Since then my vision has deteriorated to (Gingrich counting in both eyes). I have had cataract surgery in both eyes ((2004).detached retinas 3 times 2008,2009 & 2012. Have been diagnosed with glaucoma(both eyes). (Treated with eye drops at bedtime).
As bad as all this sounds,I’m doing well dealing with all this.
I took my Seniors training for living independently at The Louisiana Center for the Blind in Ruston. Since then I am back working part time & helping with our TLC program to show low vision and blind Seniors how to live the life they want . Enjoying what I do and today I’m living the life I want!
All is not lost because of our inabilities, we just regroup ,take a breather and go on with our lives. I’m 69 yrs. old now and feel I am still accomplishing what I need to for myself and others.
Blindness w not what defines us…….
Travis Floyd ♥️
Comment by Travis — October 13, 2018 @ 11:31 am
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