retina subspecialists

[Dr Krazy]

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Hello,

A friend of mine has a 4-month old baby who had an abnormal ERG recently that showed "the brain isn't receiving messages from the retina," in her words. Also, one of the symptoms is nystagmus. Although I have matched in neurology, I don't know enough about neuroophthalmology (yet) to know what this condition might be, and it sounded more like an ophtho problem besides, so I figured I'd ask about it here.

At any rate, does anyone know who the top retina ophthalmologists in the country are? My friend is willing to fly anywhere and is looking for someone who is an expert with retinas in the infant population. Also, if anyone knows what the diagnosis (or differential) could be, that would be interesting to know too 🙂

Thanks-
Dr Krazy

 

[eye3md]

Some of the top pediatric type folks in the retina world are in Michigan. Antonio Capone, MD and Michael Trese, MD. These guys really deal with Retinopathy of Prematurity though and not infant blindness.

There are numerous reasons for this negative test. Just for educational purposes, an ERG measures the function of the retina and a VEP measures the connection between the eye and the brain. Mos likely the infant has Leber's Congenital Amaurosis. If not ruled out already, other possibilities include bilateral dense cataracts, optic nerve hypoplasia, sever macular damage from infetious processes, etc... With the tests having been performed, that you mentioned, it sounds like these issues have already been evaluated. Unfortunately, the parents could go to the "best" in the world but there is no cure for Leber's Congenital Amaurosis. Please make sure a pediatric ophthalmologists is examining the infant to rule out all possibilities and give the proper advice. Hope this helps.

 

[Retinamark]

This is a tough problem
Firstly getting good quality ERG’s in babies is difficult because there is a big variation among normal infants & artifacts are more common
I have read that it is possible to have a flat ERG in a normal infant who later shows a normal ERG.
A very important factor is what the child’s systemic status is like – are there any signs of a genetic disorder
Follow-up testing may be required to confirm the Dx
Leber’s (NB Leber’s congenital amaurosis – warn the parents not to get confused with the many other Leber’s eponyms if the do internet searches) is the most common cause of infantile nystagmus & poor vision.
One other common disorder in the differential which should be easy to rule out is albinism. There is a long list of systemic disorders associated with severe early onset retinitis pigmentosa, so exam by the pediatricians / genetics team is important.
If there is any suggestion of a genetic ophthalmic disorder, Ed Stone in Iowa is probably the best in the country. I’m not sure what the pediatric electrophysiology capabilities are like there though – that would be an important thing to ask.

Arguably the best pediatric genetic ophthalmologists in the world are Tony Moore and David Taylor in London.

Hope this helps