There are many different eye conditions that are associated with congenital nystagmus; theoretically, any bilateral visually-significant pathology present at birth or in infancy during the critical period of visual development may interfere with the development of stable fixation (1) Eventually I'll get around to discussing the finer points of nystagmus; but for now, I'm sticking to some basic study stuff.
Phakomatoses are a multidisciplinary category of systemic diseases that is often tested for a multitude of reasons. Although the incidence of these conditions is fairly low (though chances are you will see at least 1 case of many of these conditions), there are many ocular findings that need to be considered.
I've been debating how to organize this information in a useful manner for review for quite some time. The subject material is pretty massive, and each condition could easily take several articles (and probably eventually will). But I wanted to make sure there was a useful review out there on this subject before the written board exam, in case the test covers one of these conditions.
In light of the Centers for Disease Control's very broad statements about alcohol use in women, perhaps this topic is somewhat appropriate. Like I alluded to in the OKAP review article on embryology, there are many ocular findings associated with fetal alcohol syndrome, which are important to know, both for clinical recognition, and also for ongoing monitoring. For further reference, the CDC has a pretty useful web portal on fetal alcohol spectrum disorders.
As you can probably tell, I'm starting to skip around a little bit while I put together these OKAP review articles. I have a fairly large list of topics to cover, but hopefully these will all be helpful pieces of information. I decided to skip to aniridia, because it is one of those conditions that seems to be very popular in practice questions.
There are TONS of causes of leukocoria (white pupil). But this can be a very important differential, as it can be the presenting sign of some sight-threatening and life-threatening conditions (most obviously retinoblastoma). Because of its clinical importance, it is essential to be able to not only recognize what it is, but to also have a decent differential diagnosis so that you don’t miss out on any key causes when conducting a history and physical.