Retinal Specialist

On February 25th, we took Sophia to see a Retinal Specialist at Children's Medical Center in Dallas.  He was recommended to us by the second pediatric ophthalmologist that saw Sophia.  They wanted him to evaluate Sophia's retinas in greater detail to see if he could not only corroborate their findings, but also to see if there was anything else he would find upon examination.

We had high hopes for the visit, that we would hear good news and that he would have something new and positive to say about Sophia's condition.  Well, one of those things came true, and not the good part.  He discovered while looking at Sophia's retina that she has foveal hypoplasia.  This means that Sophia cannot see things in detail and that most likely she is color blind because the area of her eye that controls color vision did not form.  He also told us that Sophia's nystagmus (rapid eye movements) are occurring because her vision is so poor, and that this is her brain's way of trying to compensate.  However, this causes her vision to be even worse because her eyes are moving so fast, that her brain cannot keep up.  He also elaborated on the information that we already had regarding her retinal lacunae.  He said that she has 10-20 holes per eye and that he had never seen anything like it before.  This is probably the most devastating of the findings.  First, because the lacunae mean that Sophia only has "holes of vision."  It would be like looking through swiss cheese...and only being able to see out of the holes.  Second, because the severity of Aicardi seems to be directly related to the number of holes. 

He was unable to tell us what Sophia is able to see.  But he does feel that she is able to distinguish light from dark.  For instance, if Sophia is in a lit room she knows it, and if she is in a dark room she knows this too.  He thinks that best case scenario, Sophia can see shadows and possibly very large objects, but nothing in detail.  All of this only in a lit room, he thinks that due to her poor vision that she will only be able to see in well lit areas and that in dark rooms she becomes completely unable to see anything.  To be honest though, we won't know what Sophia is able to see until she is old enough to tell us.

Of course we wanted to know if there was anything that we could do to help correct her vision to which he answered, "no".  She is not a candidate for glasses, nor would she be a candidate for surgery since the nystagmus is not her primary problem.  I even asked if a stem cell transplant would be an option, to which he again answered no.  So we heard a lot of disappointing news during this appointment, without getting any real answers or solutions to her problem.  But at least he was honest - there is nothing worse than someone giving you false hope, only to later take it away.  However, I do feel like each doctor's visit that Sophia has with her specialists takes a little piece of my hope away.  A little piece of my heart breaks after each visit and it is so hard to stay positive sometimes.  But I do, because it doesn't help her to have a sad Mommy who isn't trying her darnedest to find something or someone better for her to see.

On a positive note, we have an appointment with a pediatric neuro-ophthalmologist here in Dallas on March 31st.  We have had to see 2 pediatric ophthalmologists and the retinal specialist prior to seeing him.  Its like they are all gate keepers to the great Oz.  Hopefully, Oz will have an answer for us...and not just be a little man behind the curtain.