myelinated nerve fiber layer

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.

Embryologic Development Of The Eye

Truth be told, there is not very much detail that needs to be learned about embryology; after all, we've already learned embryology in medical school.  At the same time, there are some key embryology concepts that are very helpful to understanding ocular disease, and may also show up on test questions.  There usually seems to be at least one question that addresses embryology, and there are tons of practice questions that test your knowledge of embryology.

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.