Raphael's colobomas

I have a special treat for you today.

The ophthalmologist kindly agreed to take photos of Raphael's coloboma. We did not get a photo of the right eye coloboma becuase it is quite low but there are some good ones of the left eye.

Left:

Right:

If people are interested I amhappy to explain the parts of the images (as far as my eye anatomy will allow me to do so).

Vision research for occlusion and colobomas

I have had this blog post in draft for a very long time. These were references to papers that supported patching (occlusion) to improve vision in eyes that have serious physical defects. They didn't appear to be very well written but they gave me hope for patching in Raphael and my hope has been vindicated. I only provide the references here in case any other parent in a similar situation needs them:

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=ShowDetailView&TermToSearch=16767381&ordinalpos=1&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=ShowDetailView&TermToSearch=15534588&ordinalpos=4&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=ShowDetailView&TermToSearch=15162287&ordinalpos=5&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=ShowDetailView&TermToSearch=7065094&ordinalpos=9&itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum

Signing and speaking progress

Raphael has made moderate speaking progress this year but has been picking up Auslan signs extremely quickly. I can no longer count how many signs he knows because there are too many to keep track of.

Today he spontaneously used a two sign phrase that we have not used with him before. He signed "Brother" then "Sit" then pointed to his back. This was shortly after his mean father put a stop to a game where Raphael's older brother was bouncing on Raphael's back.

So that Raphael can participate in eye chart tests, we trained him to sign the eye chart pictures. I did this by photographing the chart with my phone and sitting with him and going through the pictures. Here is the result of our work:



You'll notice that I have been a bit slack in blogging lately. I have stopped blogging every single appointment because it was getting silly with at least four a week.

Not an ordinary eye examination

We saw the orthoptist today and the conversation went something like this. Edited for brevity

After a bit of testing...
orthoptist: his right eye seems to be developing normally
me: should we patch him to see how his left eye is going?
orthoptist: he won't be able to see
me: I think it is worth a try
orthoptist: there is no point he wouldn't be able to see out of that eye because it is too abnormal
me: "you're wrong" (my exact words)
orthoptist: pardon?
me: "you're wrong!" (more exact blunt words)
orthoptist: ok, lets have a try to see what he can see

After a bit more testing with his right eye patched...
orthoptist: I am pleasantly surprised with what he can see with his left eye
me: it is a shame that he is not getting any vision from his left eye when his right eye is open
orthoptist: no he is getting peripheral vision from his left eye
me: I don't think so

After a bit more testing...
me: wow you are right!

After we saw the orthoptist we saw the ophthalmologist (eye doctor) and his general comments were that he was surprised as how the patching had been so successful in improving his vision in his left eye and that, even though his right eye was still the most important eye in terms of real vision for Raphael, it would be nice to get as much vision out of the left eye as we can.

He stressed the importance of not patching Raphael too much, so as to hinder the normal development of his good eye, but our current regime of 30-60 minutes of patching each day (when we remember, ie more like every other day) was not too much and as it had been so successful so far he encouraged us to continue with this method.

The bad news is that since the patching seems to have been at least partially successful we will have to keep on doing it. ie Because we have done all this hard work, we have more hard work to do [sigh].

Raphael's eyes and vision

The "C" in CHARGE - Coloboma (ocular)
The following are the details of what we know about Raphael's eyes and eyesight.

Medical Information
Raphael's notable eye conditions consist of the following:

1. Large right eye compared to his left eye (13/10/2006 - ophthalmologist).
2. Corneas (13/10/2006 - ophthalmologist) are measured as:
• 11.5 in the right eye (at the upper limit of the normal range);
• less than 9 in the left.
3. Intraocular pressures are:
• right 13/10/2006 (opthalmologist): 19mmHg
• left 13/10/2006 (opthalmologist): 14mmHg
• right 16/1/2007 (opthalmologist): 23mmHg (no evidence of glaucoma)
  
• right 17/4/2007 (opthalmologist): 21mmHg (no evidence of glaucoma)
• left 17/4/2007 (opthalmologist): 18mmHg
• right 18/4/2007 (opthalmologist - under GA): 15mmHg
  
4. Right eye is mildly hypermetropic (13/10/2006 - opthalmologist).
   
5. Left eye retinoscopy suggests some myopia (13/10/2006 - opthalmologist).
6. Dilated examination (13/10/2006 - opthalmologist) shows:
• Essentially normal right eye;
• Microphthalmic left eye with posterior staphyloma and excavated morning glory type disc. [the MRI report 18/12/2006 confirms this staphyloma]
7. The "left optic nerve appears smaller than the right, suggesting optic nerve hypoplasia" (MRI report 18/12/2006)
8. There is "also cupping of the optic disc / optic nerve head in the right globe also", "but much less severe than on the left" (MRI report 18/12/2006)
9. Right eye has an inferior chorioretinal coloboma at bottom of eye (5/6/2007 - opthalmologist, second opinion).

Explanation of the Medical Terms
The following is my simplified understanding of the terms and/or concepts listed above:

1. I suspect that Raphael's right eye is larger than his left becuase of the microphthalmic (genetic small eye) condition of his left eye (see point 6).
2. The cornea is the transparent covering over the pupil (black bit) and iris (coloured bit) of an eye. The coloured bit of Raphael's eye is larger than the coloured bit of his left eye.
   
3. intraocular pressure is a result of fluid in the eye. The normal range of this pressure is between 10mmHG and 20mmHg (mmHg is a measurement of pressure, see Torr). Raphael's right eye is at the upper limit of acceptable pressure. Under General anaesthetic another reading was taken that shows that there isn't a pressure problem. The readings that are taken under GA are much more reliable because normally the eye is squeezed to take the test which can give a higher reading than the actual pressure).
   
4. His right eye is mildly far sighted.
   
5. A retinoscopy is an objective method of examining some aspects of vision, it does not rely on a patient's response. a retinoscopy showed that the mechanics of his left eye have some myopia (short sightedness).
6. His left eye
• is small (microphthalmic) and underdeveloped;
• has a posterior staphyloma: bump on the back of the eye;
• has a morning glory disc: a large gouge where the optic disc is (in the internal part of the eye ball where the nerves converge). A morning glory disc is a specific type of optic disc coloboma. Colobomas are common CHARGE syndrome features. I don't have a photo of Raphael's morning glory disc but I have sketched what I think it might look like. With permission, I have also included a scan from the Australian CHARGE association handbook that describes the parts of an eye with a coloboma; and there are some great photos of them here if you want to see what they actually look like in other patients.
• . .
  
• . .
7. Raphael's left Optic nerve hypoplasia is the underdevelopment of the nerve that connects the left eye to the brain. I suspect that this is associated with the microphthalmia but I have no texts or professional advice to support this assertion.
8. The optic disc is the small portion of the back of the inside of the eye where the nerves converge and exit from the eye ball. The optic disc is a cup shape that is actually a blind spot in vision. "Optic disc cupping" refers to when this cup is enlarged thereby enlarging the blind spot and possibly indicating nerve damage. In Raphael's case the cupping noted on the MRI report is just a different way of different way of describing the morning glory disc.
9. There is also a coloboma (problem with the retina) down the bottom of his eye which is probably going to reduce his upper field of vision from his right eye.

The Implications of These Conditions

1. I don't think that there is any inherent problem with Raphael having his right eye larger than his left eye, except in this case the smaller eye is microphthalmic (see point 6).
2. I am not aware of any implications of the retinas being different sizes (right larger than left).
   
3. High intraocular pressure (fluid pressure in the eye) is called ocular hypertension. The risk associated with ocular hypertension is that it can lead to glaucoma which is the loss of retinal ganglion cells (nerve cells). This can in turn can lead to blindness. Because Raphael's right eye ( his only good eye) is at the higher end of normal pressure range, it is important to get his eyes checked regularly in case the pressure builds up.
4. Far sightedness in his right eye can be corrected with glasses but isn't necessary at this stage.
   
5. The short sightedness of his left eye could be compensated for with corrective lenses.
   
6. Left Eye:
• Some potential issues of his left eye microphthalmia can be mitigated with "Lens correction for refractive errors, often tinted; lighting according to needs, to control glare" (source: spedex)
• Raphael's left eye staphyloma is the obvious external sign of the morning glory disk inside his eye. The staphyloma itself is not large enough to cause any mechanical problems; it is the internal component (coloboma) which has the implications.
• Raphael's the morning glory type disc (coloboma) is so large that it prevents vision in the upper/central and sides for his left eye (including his macula and fovea). Some simple experimentation while putting an eye patch over his right eye demonstrates that he can only see toys as they enter the lower central field of vision. Further testing at 26 months reveal that his left eye vision appears to be suppressed when his right eye is not patched. When his right eye is patched he has enough left eye vision to allow him to walk and manipulate medium sized objects with ease. Colobomas cause an increased risk of retinal detachment. Detachment is disastrous for vision and can only be detected by expert examination or changes in eyesight for the person affected.
  
7. I don't know if Raphael's vision is effected by his left eye optic nerve hypoplasia. http://www.blindbabies.org/factsheet_onh.htm describes the characteristics of optic nerve hypoplasia (ONH) as ranging from "normal visual acuity to no light perception. The effect on the visual field may range from generalized loss of detailed vision in both central and peripheral fields (depressed visual fields) to subtle peripheral field loss."
8. The cupping of the left optic disc noted in Raphael's MRI is the same as the morning glory disc. See point 6 with regards to the implications of the morning glory disc.
9. Nothing can be done to repair his right eye coloboma, some people have described that these types of colobomas are like wearing a cap that obscures the top part of vision.

Summary:
"he has very limited or no useful vision in his left eye" (2/2/2007 - opthalmologist). At this stage is appears that Raphael has little practical vision in his left eye and his right eye also may have vision problems in the upper field and is mildly far sighted.

We have been told that nothing can be done to correct the vision problems with his left eye, but there is a good chance that he will have reasonable vision out of his right eye with corrective lenses if necessary.

I have not given up all hope for his left eye yet because I know that he has at least some vision in that eye.

Practical Tests by Behaviour at about 1 year old
Annie and I have performed some practical tests on his eyesight by eye patching each eye in turn and trying to see what he can see by introducing interesting objects into his field of vision.

His right eye seems to have an excellent field of vision and it appears that he can spot toys in the centre, high, low, left and right. He also responds (smiles) to a person who smiles when they are five metres away.

His left eye is hopeless compared to his right. When his right eye is covered he pulls back as though he has been blinded and pulls at the eye patch to try to remove it. This is a very different reaction to when his other eye was covered. His left eye field of vision seems to be very poor. He can only sight toys as they enter the lower central field of vision. He does not respond to anything presented in the centre, top, left, or right of his vision.

When not eye patched and looking up his right eye tracks an object well, but his left eye rolls back and is clearly not even centred on the target at all.

Raphael's development: physical and mental

The other "R" in CHARGE - Retardation of development

The following are the details of what we know about Raphael's development:

1. It is noted that Raphael's brain appears normal from an MRI scan (18/12/2006)
   
2. Sensory problems are noted with:
• Hearing from ABR (Auditory Brainstem Response) tests and VROA (Visual Reinforcement Orientation Audiometry) tests. See Raphael's ears, hearing and balance for detailed information.
  
• Vision because of bilateral colobomas in his eyes. His vision in his left eye is nearly non-existent but he seems to receive very useful information in his right eye. See Raphael's eyes and vision for detailed information.
  
• Balance from malformed vestibules with only one hypoplastic semicircular canal. Practical experiments show him to slow or no response to to unbalancing circumstances. See Raphael's ears, hearing and balance for detailed information.
  
3. At this stage Raphael appears to only be slightly delayed in his development which is appropriate considering his sensory problems. The following are the groups of posts where I have noted (what I think) are significant signs of development.
   
• Gross motor development
• Language development
• Fine motor development
• Hearing
  
• Vision
• Intellectual development

The Implications of These Conditions

1. A normal appearing brain is not necessarily a guarantee of normal mental and physical development but it is an encouraging sign.
2. Raphael's sensory problems are likely to delay his development until he receives technology to help compensate for his sensory problems or until he learns to compensate for one sensory loss by using information from another sense.
• Raphael has been fitted with hearing aids and frequent visits to the audiologist are necessary to continue to try to resolve the problems with feedback that we are having with his right ear. The problems are probably due to the lack of definition in his right ear which make it difficult to find anchor points for the hearing aid.
• Sadly there is little that can be done for the lack of vision in one eye. If, in the future, Raphael demonstrates that he has some useful vision in his left eye then it may be appropriate to place a patch over his right eye for short periods of time to force his brain to analyse the data coming from his left eye.
• Poorly developed balance organs mean that Raphael will have to use different senses to compensate for the lack of balance organs (vestibular semi circular canals). Physiotherapy will play a big role in training his other senses.
3. I attribute Raphael's (only) slight delays to the excellent therapeutic advice and equipment that he is receiving from ELT (Early Learning Tasmania), CHC (Calvary Health Care), and RIDBC (Royal Institute for Deaf/Blind Children).
   

Summary:
Thanks to lots of stimulation, Raphael is developing well considering his sensory problems; he has even started to walk at 26 months and has a vocabulary of about 15 Auslan signs. It is encouraging that our hard work is helping him developing well, but this is a double edged sword. It means we need to continue to work hard on his therapies even though we feel drained from the endless appointments and hospitalisations.

Ophthalmologist

We had a quick Ophthalmologist appointment today.

While waiting for the appointment we noticed some people signing in the waiting room and when I saw one of them comment of Raphael's hearing aids I introduced myself and took the opportunity to practice some Auslan on them.

There is nothing new to really comment on from the appointment except that the Doctor offered to examine the articles that I had found with regards to the benefits of occlusion (patching) with a severely malformed eye. I am looking forward to his reply to my email that I sent to him with the articles.

An example of Raphael's vision and gross motor development

The blind receive sight!

We purchased some eye patches at the chemist today and patching his left eye has been an amazing experience. Unlike our previous patching experiences, where he just sat still and cried, this time he wanted to explore and actively grabbed things with his hands. Of course he is not as accurate as with his right eye.

I had prepared some toys that made noises so that they might have been able to draw his attention to them but he was not particularly interested in them. He happily found all sorts of things to play with. We found that he seemed to be able to see quite small things so we started to test to see exactly what he could see. We put smaller and smaller objects on his play surface, until he could not see them any more. We found that he could even see coco pops. The only test that he failed was that he could not see white grains of rice on the pink blanket; having said that, my wife could not see them either though.

This has taken us completely by surprise. We thought he was almost completely blind in his left eye but he has shown amazing prowess with it.

This has reminded me of a passage form the bible - Luke 7:22:

So he replied to the messengers, "Go back and report to John what you have seen and heard: The blind receive sight, the lame walk, those who have skin diseases are cured, the deaf hear, the dead are raised, and the good news is preached to the poor.

His left eye seems to be much better than before, his gross motor skills still improving (although he is not yet walking), his eczema has cleared up, he is still deaf (I expect God is still working on this one), and he is not dead.

I send my appreciation and admiration to all of Raphael's doctors, nurses, therapists and teachers. Your skills and hard work are improving my son's quality of life.

Ophthalmologist

The ophthalmologist review today was mostly done by a registrar at the hospital. We talked about the possibility of probing his tear ducts again but because we are still paranoid about Raphael having general anaesthetics we declined the offer.

We obtained some information about eye patching to see if we can improve the vision in Raphael's left eye. Both the consultant and the registrar didn't think that there was any real hope for getting vision out of Raphael's left eye though.

Ophthalmologist and Orthoptist

An Orthoptist visit today confirmed that Raphael is not getting any usable vision from his left eye. But the good news is that his right eye seems to have good vision despite the small coloboma at the base of that eye.

There was not much to talk about with the ophthalmologist, so that was only a quick consultation. We talked about the possibilities of attaching the eye probing procedure to future surgeries because his last surgery was cancelled.

The longest part of this visit was actually trying to pay the bill, the new receptionist was hopeless, when she finally worked out what to do, she messed it up and had to do it all over again. I think it took about twenty minutes to pay the bill. I was not impressed becuase we had a tightly scheduled morning of twelve things to do at nine different locations. We still ended up managing all but two but I was so exhausted by the afternoon that I collapsed in my chair to sleep for two hours. Thank goodness that our ever-ringing phone didn't drill it's ring tone into my head while I was asleep.

Weighing today (10.08kg)

Today his weekly weighing put him at 10.08kg which is a marginal increase of 50g since last weighing.

Also today, Raphael's Early Learning Teacher and Vision consultant visited us because Raphael could not make it to the last group with his ear infection. His teacher brought a box with her that seemed to contain an endless stream of things that Raphael found intensely interesting. Raphael showed off his ability to see and demonstrated his fine motor skills by posting objects into a box and manipulating small objects with his fingers.

Orientation and mobility presentation

This evening we went to an introduction to orientation and mobility (O&M) presentation done by Raphael's vision therapist at the Early Learning campus. The primary focus was for children with vision impairments but the content was still very relevant for Raphael. I am looking forwarded to working more with the vision therapist to help Raphael learn how to travel safely and take note of his environment to help him learn and play.

Half way through I was supposed to go to my Auslan course but when I got there it was all quiet and the lights were off. Then I checked my mobile phone and I found that the whole course had been cancelled due to lack of members. That was a bit disappointing because I was really enjoying that course and I was learning a lot. I will have to start to place more formalised personal structure in learning from the other resources that I have for signing.

After the O&M presentation we were given the opportunity to wear occlusion glasses that simulate Raphael's vision loss. It was an eye-opening experience (if you will pardon the pun). Even though I was aware of Raphael's vision field losses, this practical experience showed me what it was actually like to experience that vision. My most notable impression is that I can now see why people think that he has good vision by casually observing him; but I am also much more aware of what he is missing out on and how limiting it is to see what can be found in his environment. I found that my hearing would react to things that my vision would normally detect first and so I was frequently in a state of surprise. Raphael of course does not have the benefit of normal hearing and so this sense of environmental awareness is further limited for him.

After my wife and I had both had a turn we put the glasses on Raphael, first in the opposite way to his actual vision which confirmed that it effectively blinded him. He was unwilling to move anywhere and briefly made an unsuccessful groping motion with his hand to find something to touch. When we turned them around to match his vision loss he was happy to crawl around again but eventually signed "finished" to indicate that he had enough of wearing the glasses (caught on the last photo in this blog entry).

Ophthalmologist 2nd opinion

This afternoon we took Raphael to RHH to see an orthoptist and to get a second opinion from an ophthalmologist, who has specific experience in genetic and paediatric ophthalmology.

The orthoptist tested Raphael's vision with rather peculiar grey boards with black and white stripy lines on one side and a tiny hole in the middle to look through from behind. She span the board around till I felt dizzy and then stopped and looked though the little hole from behind to see if Raphael looked at the side of the board with the stripes. She repeated this with boards that had finer and finer stripes until she declared that Raphael's vision appears to be quite good; at least the vision out of his good eye is quite good anyway.

The ophthalmologist consultation was very interesting. The result from the pressure test on the 18/4/2007 was that the pressure in his right eye was 15mmHg (this is well within the safe range). He examined Raphael and said that Raphael had a coloboma in his right eye as well as the left. This right eye coloboma was small and very low down which meant that it would probably only effect the very top of Raphael's vision. He also recommended that Raphael's tear ducts only be probed and not flushed when they are examined in his coming surgery.

Topics covered:

• Raphael's general vision
• Colobomas
• Eye pressures
  
• Probing and flushing tear ducts at next surgery
  
• What can be done to help his left eye
• Retinal detachment
• Critical developmental ages for eyes
• Eye sizes
• Optic nerve hypoplasia and micropthalmia
• Type of eye specialists
• potential treatments in the future

Ophthalmologist

We had a long ophthalmology appointment today where we bombarded our ophthalmologist with a page of questions that we had based on research that we had done into charge syndrome.

I will add the list of topics that we covered here after I have had a chance to listen through the audio recording, I think that the most important thing to note was that the eye pressure of his right eye (the good one) is still at the upper limit of the acceptable range.

When we advised the doctor of the general anaesthetic that we are having tomorrow, he commented that this would be a good opportunity to get a more accurate eye pressure reading and we hastily arranged a consent form and someone to actually perform the test.

RIDBC and Australian Hearing

Today we received a package from RIDBC (Royal Institute for Deaf and Blind Children) containing:

• A few toys to borrow (these are great, we had to forcibly extract these cool new toys from our older kids so we could play with them - erm I mean so that Raphael could play with them);
  
• Some suggestions on methods that we can use at home to test Raphael's vision and hearing; and
  
• Some specific games designed to solicit responses from visual and auditory stimulation.

Annie will hopefully go to a video conference with Raphael's RIDBC teacher who is in New South Wales. The teacher said that her speciality is for blind children, it is a shame that in our case Raphael is more deaf than blind, but we are very happy to get the multi-sensory loss early intervention services.

I say "hopefully go" because the venue that hosts the video conferencing facilities in Hobart is owned by Australian Hearing and they will only allow their own clients to use this facility. So guess what we did... that's right, we applied to become clients of Australian Hearing. This bureaucracy is actually good because we were not aware of Australian Hearing before. Australian Hearing are the Australian federal government group responsible for supplying hearing aids for children who are assessed as needing them. To qualify for this free service we need to apply and we are required to have a doctor's referral. So tomorrow morning we have a an appointment with our GP to get one of these. Hopefully all of this will be sorted out by Friday so we can use the video conferencing facility.

Ophthalmologist

Another Ophthalmologist visit confirmed that his left eye has Retinal Coloboma but his right eye clinically appears to be normal.

He said that there is nothing that can be done for Raphael's left eye but it is important to monitor his right eye to make sure that one remains ok. There were signs of high pressure but the figures are still currently within the safe upper limits.

Eye behaviour

The eye behaviour doctor visited again and armed with the information from the ophthalmologist made further recommendations on how to exercise Raphael’s eyes and warned about watching for certain potential developmental problems.

September 2006 - Ophthalmologist

An eye surgeon examined Raphael and commented that Raphael’s left eye had a number of problems that probably renders it useless. His right eye also had some minor problems and it would be a good idea to keep track of that eyes progress to make sure that nothing further goes wrong with it.

Eye behaviour specialist

An eye behaviour specialist visited Hobart once every three months so this was the first time he could see Raphael. He noticed that there was definitely something wrong with his eyes and referred him to an Ophthalmologist (eye surgeon).