Friday, February 1, 2008

Eye of the Beholder

This is an image of the right eye of a 15 year old male. He has been partially deaf since he was born and also has a patch of white hair along his forehead. Indeed, it looks somewhat like the hair seen here:

When you take a family history, you find these symptoms follow an autosomal dominant pattern.

Challenge: What is your diagnosis?

Related Questions:
1. What is the eye finding called?
2. What is the hair finding called?

First image shown under GNU Free Documentation License.
Second image shown under fair use.

1 comment:

Craig said...

Eye of the Beholder

The eye finding is sectoral heterochromia or heterochromia irides; the iris is blue with a brown section. Complete heterochromia would be an iris that was a different color than the other iris. The hair finding is called poliosis. Abnormal distribution of melanocytes during embryogenesis results in patchy areas of depigmentation. The disease described here is Waardenburg syndrome, a rare genetic disorder characterized by deafness, structural defects arising from the neural crest, and abnormal pigmentation. There are several types, most of which are autosomal dominant. There is no treatment or cure.

Source: Wikipedia, UpToDate.