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• Flecks of Pigment
• Posted: 2008-02-20 19:13:01 By Michelle W
• Our daughter (dd10) saw the retina specialist today. I thought we were home free - that her night blindness was nothing - until the very end of the exam. The retina specialist said he saw 'flecks of pigment' in dd10's peripheral retina. He sent her on for a VF test and an ERG.
  
  So is this 'flecks of pigment' in the peripheral retina consistent with RP? (As usual, I thought of a ton of questions after we'd already left).
  
  Is RP a wait and see game? We have no one else in our family with RP and so have no idea what to expect - if it does turn out to be RP. My sister has night blindness but she was told that it was because of her end stage Crohn's and a result of growths she has behind her eye.
  
  What's involved in an ERG? From what I understand, its a 2 hour or so test. I gather its not very pleasant.
  
  Any and all information very much appareciated.
  
  Thanks.
  
  Michelle

• Re: Flecks of Pigment
• Posted: 2008-02-20 22:46:25 By Darran Z
• Michelle,
  
  The ERG will reveal what is at hand. Peoplw with RP have very very low or no response to the test. It's not painful, they have come along way since I have had it done. But basically your dd will wear a contact lens type of thing that is attached to an electrode. She will be in a very dark room and would have to remain still and look at a dot or something. I had one done when I was 6 years old (i'm now 33). It takes a long time because the readings are for multiple wave lengths and one eye at a time.
  
  The "flekcs of pigment" is normal in RP.
  
  From the sounds of it, it sounds like your dd has an autosomal recessive form of RP. It doesn't sound like your sister has it due to Crohn's as I have heard people being misdiagnosed for RP when having another disease.
  
  RP progresses differently from individual to individual. For me, it was slow growing up but I had some rapid progression in my 20's. You also deal with an increased risk of having other eye conditions.
  
  But ask your questions. You've come to the right place.
  
  Darran

• Re: Re: Flecks of Pigment
• Posted: 2008-02-21 05:49:35 By Michelle W
• Darran,
  
  Thanks for the information and support.
  
  The ophthalmologist also asked about dd10's hearing. She has a mild loss in the high frequencies in her right ear, as well as CAPD (from her brain injury). He asked if the mild loss was progessive. No one has ever said that so hopefully not. But it looks like we should keep a close eye on her hearing, too.
  
  Michelle

• Re: Re: Re: Flecks of Pigment
• Posted: 2008-02-21 09:05:18 By Darran Z
• The hearing loss would be something different. If they are trying to confirm Usher which is hearing loss with RP, then I highly doubt that is the case with your dd. Since hearing loss in usher is bilateral and wouldn't be just in one eye. Just like RP is bilateral and if someone exhibits RP in one eye then it is something other than RP. While I don't know anything about CAPD, I'm thinking it may all be related to CAPD. But that is just a guess given what little information you shared. But certainly some brain injuries do exhibit RP and hearing loss which leads to a different diagnosis rather than RP, hearing loss, etc as individual diagnosis.
  
  Darran

• Re: Re: Re: Re: Flecks of Pigment
• Posted: 2008-02-21 09:18:58 By Darran Z
• Michelle,
  
  Doing a quick Google, keraconjunctivitis is associated with Crohn's disease. I can see how the nightblindness comes into play for your sister since this eye conidion is deficient with Vitamin A and someone deficient in Vitamin A generally has nightblindness so what your sister's doctor has been telling her is correct. The ERG would only confirm the nightblindness but won't confirm RP given her cones are not affected here and won't be.
  
  But it does sound like that your sister and your dd nightblindness are unrelated. That's where it is leading right now.
  
  Darran

• Re: Re: Re: Re: Re: Flecks of Pigment
• Posted: 2008-02-21 16:55:29 By Michelle W
• Darran,
  
  My sister's difficulty does sound different. She was told she had 'growths' behind her eyes. Its likely she has a vitamin A deficiency simply becaus she has very little bowel left.
  
  Michelle

• Re: Re: Re: Re: Flecks of Pigment
• Posted: 2008-02-21 16:54:19 By Michelle W
• Darran,
  
  DD10 had a brain injury to her white mater, periventricular leukomalacia. It normally occurs in preemies but dd10 was not a preemie. We have no clue how she ended up with PVL. PVL normally damages the visual and auditory pathways, so that's what caused her CAPD. The borderline hearing loss is not yet explained.
  
  The other confounding factor is that dd10 has vitiligo. Vitiligo can be associated with both vision and hearing impairments, but normally they are so mild the patient doesn't complain of anything.
  
  Who knows what is due to what at this point.
  
  Michelle

• Re: Re: Re: Re: Re: Flecks of Pigment
• Posted: 2008-02-21 17:20:35 By Darran Z
• Hi Michelle,
  
  Just to play on the safe side, have you been in touch with Dr. Bill Kimberling at BoysTown? He's the gung-ho guru on Usher. He may likely have an explanation because he is the Director of the research and treatment for Usher (RP and hearing loss). Having said this, he would be thoroughly familiar with other diseases and genetic issues associated with both, since he has a PhD in genetics. I would suggest consulting with him before getting to far strung on ERG testing, etc.
  
  It sounds like you understand the distinct differences of nightblindness between your sister and your dd. So I wouldn't focus so much on the coinicidence of each because both are unrelated causes.
  
  Darran

• Re: Re: Re: Re: Re: Re: Flecks of Pigment
• Posted: 2008-02-21 17:27:32 By Michelle W
• Darran,
  
  Thanks. How do I get in touch with this Dr.?
  
  Michelle

• Re: Re: Re: Re: Re: Re: Re: Flecks of Pigment
• Posted: 2008-02-22 09:43:11 By Darran Z
• Michelle,
  
  You can find his contact info from this website:
  
  http://www.boystownhospital.org/Usher/index.asp
  
  
  Darran

• Re: Re: Re: Re: Re: Re: Re: Re: Flecks of Pigment
• Posted: 2008-02-22 09:56:01 By Michelle W
• Darran,
  
  Thanks for the info.
  
  I have another question for you. Is there anything else that 'flecks of pigment in the peripheral retina' could be other than RP?? I have a call into the Dr. to see if that's what he meant that his findings were 'very suggestive.' I was in a bit of shock that he found anything at all and didn't ask him to say what he thought his findings were highly suggestive of. Now I want to know rather make assumptions.
  
  It doesn't seem that it could be congenital night blindess as the retina is normal for that condition.
  
  Thanks again.
  
  Michelle

• Re: Re: Re: Re: Re: Re: Re: Re: Re: Flecks of Pigment
• Posted: 2008-02-22 10:28:08 By Darran Z
• I don't th ink so. Pigmentation is a classic sign of RP. So in terms of "flecks of pigment" then it would tell me early stages of RP. There is an article/publication I thought I had bookmarked that I wanted to share with you but I can't locate it at the moment. Give me some time and see if I can find it again.
  
  Darran

• Re: Flecks of Pigment
• Posted: 2008-02-20 23:21:55 By Carol C
• Michelle, doesn't your daughter's night blindness and your sister's seem just a bit too coincidental not to be related? Your sister should have an ERG,too. If her cone cells are not at all effected yet, it may not be RP. Does your daughter have any other symptoms? There is something called Congenital Stationary Night Blindness, inherited, and the night blindness does not progress, so I gather the cone cells are not affected ( meaning complete blindness will never develop). But, you've probably explored all this already. Carol

• Re: Re: Flecks of Pigment
• Posted: 2008-02-21 05:46:10 By Michelle W
• Carol,
  
  Actually, the cone angle hasn't been checked out yet. The ophthalmologist mentioned that because dd10 did poorly on the cone adaptation test, he may run antoher test - different type of ERG I think - to test cone function. The ERG that is scheduled will test rod function. I think because of what he found on dd10's retina and her descriptions of how she sees (or can't see) in the dark, he thinks primarily the rods are affected at this point.
  
  But one step at a time I supposed.
  
  And yes - my sister should see a retina specialist, too, if she hasn't already. She just couldn't remember what she was told. Because she is in the end stage of Crohn's, she's developing a lot of symptoms must Drs. have never seen before.
  
  Michelle

• Re: Flecks of Pigment
• Posted: 2008-02-21 08:27:10 By Katie V
• Michelle. My Meghan was 10 when she was diagnosed with RP. The ERG is not a fun test at all but she was fabulous. They put very very strong eyedrops in and then they blindfolded her for 30 mins to make sure not light got to her eyes. Then she went for the test. It is like contact lenses with wires. Then she has to do the test ( kind of like a visual field test). It was not 2 hours.
  
  She did fantastic. The ERG is a very important test. It came back RP.
  
  Good luck with the test. Let us know how your daughter does. We are here for you
  
  Katie

• Re: Flecks of Pigment
• Posted: 2008-02-21 16:57:46 By Michelle W
• Katie,
  
  Did the ophthalmologist wait to give a diagnosis until after the ERG? How is your daughter doing now?
  
  I was so off balance when the ophthalmologist said he saw flecks of pigment in dd10's peripheral retina that I didn't ask what he thought the diagnosis might be. Part of me didn't want to know. When the scheduler asked how soon I'd like the ERG, I almost said never!!
  
  Somedays I feel like digging my head into the sand and only coming up for chocolate...
  
  Thanks.
  
  Michelle

• Re: Re: Flecks of Pigment
• Posted: 2008-02-22 11:06:09 By Katie V
• Michelle
  When I took Meghan in for a routine eye exam they saw a mass on her eye. They immediatley sent us to a Children's hosptial in the area for an MRI. They thought it might be a brain tumour. The MRI came back clear and through other tests we found out it is calcium and has nothing to do with anything.
  
  The neurologist was going to let us happily go our way. But he decided to do some routine eye testing. She miserabley I mean miserably failed a basic peripheral field test. The old follow the finger with your eye and let me know when you see it. I thought she was goofing around.
  
  They then sent us to another specialist at Toronto Sick Childrens Hosptial for an ERG. In that time I had done tons of research. Her symptoms were all like RP. But I kept denying that as THERE WAS NO WAY SHE COULD HAVE RP. But I knew she did. After the ERG it was for sure.
  
  Meghan has night blindness and good central vision 20/25 without correction. She has 40 degrees peripheral left. She bumps into things and cannot see at night but she is doing FABULOUS. She is the most outgoing child and has made RP really easy for us. She sings and plays soccer. She tries out for all the sport teams at school though she will never make them. Basketball seems to need good peripheral vision LOL. She has great goals in life and I know she will meet them. We volunteer for the FFB Canada and hope that she sees a cure or treatment in her lifetime.
  
  There is not a day that goes by that I do not worry about her life. But then I see her smiling and laughing and I JUST know it will all be okay. It is certainly not what I had planned for her but life never is.
  
  Keep us posted on how your daughters ERG goes. I hope I have not written to much LOL
  
  Katie

• Re: Re: Re: Flecks of Pigment
• Posted: 2008-02-22 13:08:32 By Michelle W
• Wow Katie. What an experience.
  
  I don't know how well they will be able to measure dd10's visual fields because her fixation is poor and she has simultanagnosia (ability to see only one thing at a time) from her brain injury. I guess they will figure it out. The difficulty, according to an ophthalmologist, is that the typical ring scotoma could be missed as a result.
  
  I'm relieved to hear your daughter is doing OK. I knows ours will be OK as well. My husband (dh) also has a vision loss that happened literally over night (accident). It took many months, but he's finally returning more or less to a new normal (he can no longer drive or read). I think life goes on with our without us and its better to go with life than not (my philosophy).
  
  Michelle

• Re: Re: Re: Re: Flecks of Pigment
• Posted: 2008-02-22 13:18:06 By Katie V
• Michelle
  
  That must be so tough with your husband. I am sorry that he lost sight because of an accident. I imagine that would be tough for everyone to deal with. I am sure the specialist will be able to do all the tests they need to diagnose your daughter properly.
  
  Not sure ( if I already have then forgive me LOL) I have a private parent support group called Parents of Children with RP. If you would like to join I need your email address.
  
  Katie

• Re: Re: Re: Re: Re: Flecks of Pigment
• Posted: 2008-02-22 13:35:49 By Michelle W
• Katie,
  
  My email address is below, but here it is again: mlwilson1@fuse.net.
  
  Thanks.
  
  Michelle

• Re: Re: Re: Flecks of Pigment
• Posted: 2008-02-22 13:12:18 By Michelle W
• Katie,
  
  How does one join the parents of children with RP group? My email address is mlwilson1@fuse.net
  
  Thanks.
  
  Michelle

• Re: Re: Re: Re: Flecks of Pigment
• Posted: 2008-02-22 13:37:18 By Katie V
• done!