Clinical Disease

Glaucoma Genetics

Glaucoma Genetics

There are many inheritable forms of glaucoma, both primary and secondary. While inheritance patterns and genetics are not perfectly mapped out for glaucoma, there are some basic observations that can help us screen for glaucoma among family members:

Hydroxychloroquine And Chloroquine Screening (2016 AAO Recommendations)

The American Academy of Ophthalmology released an updated set of screening recommendations for hydroxychloroquine (Plaquenil) and chloroquine to account for the many studies that have shown the effects of these medications on the retina (1).  It succinctly makes the case for screening, and outlines the evidence for screening methods and parameters to know for screening.

Conditions Associated With Congenital Nystagmus: The 4 A's

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.

Diagnostic Criteria For Pseudotumor Cerebri (Idiopathic Intracranial Hypertension)

Pseudotumor cerebri syndrome (PTC, also referred to as idiopathic intracranial hypertension [IIH]) is classically taught as presenting in young, overweight women of childbearing age, with a history of headaches and findings of bilateral optic nerve swelling, associated with an elevated intracranial pressure.  However, as with every "textbook" definition of a disease, there are atypical cases (children, men, thin people, older people), and so I am often confronted with some interesting diagnostic challenges when I am referred a patient that does not fit the typical picture of PTC who has bilateral optic nerve swelling.

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.

Follicular Conjunctivitis

Follicular conjunctivitis is one of those topics that always seems to pop up on exams.  Because questions can be asked about the pathology and differential diagnosis, this is a topic that probably should be very familiar to you.

Fetal Alcohol Syndrome

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.

Congenital Optic Disc Anomalies

Funny-looking optic discs are a "fun" diversion in an ophthalmology clinic (sarcasm implied here).  What was initially a routine exam immediately turns into an agonizing "is this normal or not" exercise.  Part of the angst that comes from seeing anomalous optic discs is that some of the congenital disc anomalies are associated with systemic diseases.  If there is concurrent visual field loss or decreased visual acuity, the challenge becomes deciding if those defects in the visual system are due to the anomalous nerve, or if there is some other ophthalmic cause that we don't want to miss.

Optociliary Shunt Vessels

Optociliary shunt vessels (retinochoroidal shunts), are normal congenital collaterals between the retinal and choroidal venous circulation.  In conditions that cause chronic central retinal vein obstruction, venous outflow becomes redirected to the choroidal venous circulation, resulting in dilation of these collateral vessels.

Papilledema

Neuro-ophthalmology tends to have some of the more challenging questions, depending on your level of knowledge or comfort with these topics.  One of the important things to recognize and evaluate is the swollen optic nerve.

Lacrimal Gland Tumors

To be honest, I wasn't completely sure whether to categorize this topic under oculoplastics or ophthalmic pathology. Arguments definitely could be made for either, or both.

In any case, there are 3 major tumors that affect the lacrimal gland: orbital lymphoma, pleomorphic adenoma of the lacrimal gland, and adenoid cystic carcinoma of the lacrimal gland. If you see a test question about a tumor of the lacrimal gland, it is going to be one of those three conditions (probably).

Aniridia

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.

Hypertension

It seems like a large percentage of our patients have some semblance of hypertension.  For most ophthalmologists, the majority of what used to keep us up late at night in medical school - treating hypertensive urgency, adjusting long-term meds, counseling patients about sodium intake, debating whether or not to work someone up for pheochromocytoma, etc. - no longer has any direct relevance.  I don't mean this in any negative sense, of course, but the point is, management of hypertension is no longer our field of expertise.  However, there are still some key things to remember about hypertension.  After all, we're still medical doctors.

Carotid Occlusive Disease

Carotid occlusive disease is another systemic condition that has some very significant ophthalmic manifestations.  For the sake of brevity, this article will primarily highlight the systemic information we need to know for the OKAP, including transient ischemic attacks (TIAs).  I will post other articles pertaining to some of the ophthalmic manifestations of carotid occlusive disease, such as ocular ischemic syndrome and transient monocular visual loss (specifically amaurosis fugax).  Hopefully this will be a shorter one!

Pathophysiology Of Infectious Diseases

There are a ton of infectious diseases we have to know and recognize.  While hopefully most of the following are a review of concepts learned in undergrad and medical school, there are some minutiae that I often will forget.  Some of these infectious diseases will be addressed in later articles, pertaining to the specific eye condition it may cause.  Not all infectious diseases will be discussed; only the ones where there were specific pathophysiology-related discussions listed.

HIV And AIDS

I admit, most of the general medicine categories will be rather broad topics.  Truth be told, the main things you need to know about HIV and AIDS are more geared towards the opportunistic illnesses that arise from the immunodeficient state present in the late stages.  You'll likely see some of those opportunistic conditions pop up in other sections, as we work through each article.

Classification Of Nonproliferative Diabetic Retinopathy

The modified Airlie House classification has been used to classify nonproliferative diabetic retinopathy (NPDR) since the Diabetic Retinopathy Study (DRS) and Early Treatment Diabetic Retinopathy Study (ETDRS). (1-3)  Since this classification determines management of nonproliferative diabetic retinopathy, it is extremely important to know these criteria.  This classification has been further refined by Wilkinson et al for international use and was adopted as part of the AAO's Preferred Practice Pattern for Diabetic Retinopathy. (4,5)