FW: Fwd:

still no records please re send if you tried before

Hola de espana! I sent these again the other day.

I've gone ahead and compressed the file, so it should be good to go now.

Forwarding again.

hope things are better for you. can you foward to your eye guru

Hi Mark

So sorry to bother you with another eye issue case. This is a son of a friend.

I think it is a cortical issue so but much can be done but just in case

I am aware this is not your core expertise but if you can advise it would be fantastic!!

Thank you

Ps: I closed find (greatly oversubscribed last Frida). Now in Brazil for few days

Boris

Hi from Brown and Providence.

This is a tough one. There are several mitochondrial syndromes with ocular involvement including MELAS and Lebers Hereditary Optic Neuropathy (not LCA). It looks like he has had good care including strabismus surgery and originally good vision so this is not likely amblyopia. Im worried that the vision has dropped significantly in the past 5 years without obvious explanation. I think they should see a pediatric ophthalmologist, preferably one with special expertise in Genetics and/or Neuro-ophthalmology. We have one at Stanford. Let me know if you want me to make an introduction. It doesn't look super time sensitive but I think he should be seen at a top center to rule out other possible problems such as glaucoma or retinopathy as well which have been described in addition to strabismus, ptosis and optic atrophy.

Best

Please see his reply below and let me know what you would like me to do?

Would they like an intro to the expert at Stanford.

It seems that there it might be few things going on.

B