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• Wrong Diagnosis
• Posted: 2010-11-07 13:41:40 By Maha F
• Hello everyone,
  
  I am pretty new to this site, here is a background of my story. About 2 months ago, I went for a checkup with my ophthalmologist. After dilating/examining my eyes, she asked me how my night vision is. I told her that it's not great, it's ok, but it hasn't been great for as long as I could remember. She informed me that my rods are sick, and that I should see a retina specialist. A few weeks later, I was sitting in the office of the retina specialist waiting for my eyes to dilate. I was anxiously waiting to get the appointment over with so I could go home to have dinner with my husband and son. I just thought that I was born this way, not seeing very well at night, and there was nothing I could do about it and that nothing else would happen. I had no idea what was about to happen. When the doctor came in and examined my eyes, I asked "what exactly is it do you think I have?" He replied, "what I believe you have is a condition called retinitis pigmentosa." I immediately knew what it was, there was no need for him to explain. I told him that he had to be wrong, that there was no family history of this, not even my great-grandparents had anything wrong with their eyes except maybe cataract surgery in their 70s. He told me that I most likely had a recessive form and the positive thing about it all was that my son had a 1 in 1000 chance of having this disease. I was a little bit relieved but very scared as to what the future had in store for me. I was depressed for a while. After telling family and receiving a lot of support, I was urged to get a second opinion. My dad, also a doctor, informed one of his colleagues about my diagnosis. He referred me to one of the best doctors in New York City who took me right in to do an ERG, visual field test, as well as other tests (all this within a week of hearing of the RP diagnosis from the first doctor). After all of these exams, the doctor told me that my condition does not look like RP, especially since I have 20-20 vision...but something even more rare called enhanced s-cone syndrome. It's a condition that is similar to RP, but at a much slower progression. He informed me that I would most likely NOT need a guide dog or a cane and that my vision probably won't change much for at least 10 years. Because the disease is so rare, there is little else to be known.
  
  I am wondering if there is anyone else out there with enhanced s-cone syndrome. I would love to meet people who are going through the same thing. If so, you probably know a lot more about this disease than I do. I would like to learn more about it. When were you diagnosed? What are your symptoms? Have you noticed a lot of changes over time?
  
  Thank you so much.
  
  **I pray each and everyday for everyone who is affected with an eye condition, and I am hopeful that there will be TREATMENT for inherited eye diseases in our lifetime.**