These are the notes from Dr. Liu. I've tried to supply hyperlinks for all of the terms used.
Visit with Dr. Liu on July 29, 2004
I saw Max Kimpland for neuro-ophthalmic consultation regarding optic pathway gliomas.
He is 5 years of age and right-handed. He has been given a diagnosis of Asperger’s syndrome and he was noted to have cafe-au-lait spots in March 2004. A CAT scan of the head on May 14th showed left orbital and chiasmal optic pathway gliomas. We reviewed the MRI of the brain from 6/3/04 and there was a fairly significant sellar mass and involvement of both optic nerves.
He got glasses in May after seeing Dr. Chen due to poor vision in both eyes.
There is no family history of neurofibromatosis. He has no cutaneous neurofibromas.
With correction he saw 20/100 with the right eye and 20/250 with the left. The best that we could get him to do with the color plates was 3/8 with the right and 1/8 with the left. He appeared to have full fields to confrontation techniques. Both pupils are 4mm, but I thought he had an afferent pupillary defect on the left.
He had trace ptosis on the left, but normal eyelid function and no palpable masses. Ocular ductions are full and alignment is normal. He had occasional rotary nystagmus in the left eye. Slit lamp examination is unremarkable without Lisch nodules. The dilated funduscopic examination was remarkable for optic atrophy, left more than right.
Given the cafe-au-lait spots and optic pathway glioma I suspect that he has neurofibromatosis.
He has bilateral vision loss related to the optic pathway involvement, with likely contributions from both the optic nerve and the sellar components. I discussed with the family that the options are to observe because we do not know how long he has had this, versus chemotherapy. I would favor treatment because the lesion is quite large and he is certainly a risk for further vision loss. I communicated my opinion to Dr. Belasco. She told me after their visit with her that she is planning chemotherapy.
I discussed with the family that the goal of chemotherapy is to prevent worsening of the vision loss and unfortunately not necessarily to regain vision.
I can see him back in a few months and recheck his visual status.