incontinentia pigmenti

Phakomatoses: Overview

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.

Causes of Leukocoria: CREAM PIGMENT

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.