Difficult Diagnosis

[Michelle7675]

My 9 year old son starting having vision problems almost 2 years ago.  At first we brought him to a regular eye doctor.  She felt like there was a black spot on his eye so she sent us to a pediatric opthomologist.  He dismissed her findings and gave a new prescription for eye glasses.  My son was having difficulty with the glasses and couldn't be seen by this opthomologist for another 2 months so I sought the opinion of another doctor.  He felt there was a problem with my son's retina.  At this time my son's VA was 20/60 (Dec 2011).  He sent us to a retinal specialist who felt my son had stationary night blindness.  The specialist didn't want to see us again for 6 months.  Having not had any of our questions answered I once again sought the answers from another specialist at Children's Hospital in New Orleans.  He had my son take a VEP and ERG tests.  It was to be believed there was trouble with the ganglion cell layer with the right eye being slightly worse.  At this time (Sept 2012) his VA was OD 20/200 OS 20/300.  He sent us back to the retinal specialist to see how he felt his vision was after the 6 mos.  He felt like there was no change, although his VA is 20/400.  My son has to get within 6-12 inches from a paper he is reading at large print or from the TV to see it.   There is a definite problem! I He referred us to Texas Children's.  The specialist there said the vitrious of the eye was cloudy and wanted to have genetics testing to see if they could find a diagnosis that way.  Insurance has denied the claim for testing and we still have no diagnosis! I would gladly pay the $7000 if we would get a diagnosis, but I can't see doing this on a maybe.  I called him back once we got the denial but he won't do anything further with out the tests.  My family desperately needs to know what is going on and if there is ANY chance that his vision can be corrected.  Do you have any suggestions where we can go from here?

[Michelle7675]

Dr. McGarity, What medical center and/or doctor would you recommend us going to next or how can I choose a doctor that specializes in pediatric retinal diseases?  We live in Louisiana and will travel almost any where if it means we can get a diagnosis. We have been to doctors at Children's Hospital in New Orleans and Baylor Medical Center/Alkek Eye Center in Houston.  The doctors that we have seen are stumped  and are not sure.  We have seen 7 different eye doctors with various specialties 11 different times within the last year and a half. As a parent it is hard to see your child learning braille and having no idea why he is having to do this. I really appreciate your time and thoughts.  Thank you!

[Timothy D McGarity, M.D.]

Please research Congenital Stationary Night Blindness (CSNB) and other common causes of pediatric vision loss. The answer to your question: you need a accurate diagnosis first. That's key!

Best wishes,
Timothy D. McGarity, M.D.