Friday, November 2, 2007

I Spy

Despite being an avid follower of Case of the Day, you get miffed at the silly cases so far. "Craig, what's up with all your cases? Sure, some of us might consider dermatology or radiology, but you know like 50% of us are heading for ophtho. You need to have an ophtho challenge!"

Well, never fear.

You appreciate this on ophthalmic exam. There are several things that can cause this appearance, but one of them is particularly likely in this patient of Ashkenazi Jewish descent.

Challenge: This person has an accumulation of something in his cells. What is it?

Related Questions:
1. What is the finding here called?
2. There could be a vascular cause of this finding. Which artery would be involved then?

Image is in the public domain.

1 comment:

Craig said...

I Spy

This shows a "cherry red spot" of the retina. There are several neuronal lipid storage disorders that can cause this, and the classic example is Tay Sachs Disease. Tay Sachs is an autosomal inherited disease most common in the Ashkenazi Jewish population. The infantile form is fatal. In this disease, the fatty acid derivative ganglioside accumulates in nerve cells of the brain. This is what causes the cherry red spot appearance. Other diseases that can cause this include Sandhoff disease (GM2 type II), gangliosidosis GM2 type III and GM1 type 1, Niemann-Pick disease, sialidosis types I and II, Farber disease, mucolipidosis III, and metachromatic leucodystrophy. A vascular cause is central retinal artery occlusion which causes a pale retina due to reduced blood flow.

Sources: Wikipedia; "Cherry-red spot" or "perifoveal white patch"? Ospina, Lyons, McCormick in Can J Ophthalmol 2005;40:609-10.