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:

Last Minute OKAP Review

One of the things I want to do on this site is to provide more finished "products" for you, in addition to the subject/literature reviews, test preparation and study ideas, and book reviews.  These will hopefully include charts, outlines, and other media that will help augment your studies.  I am working on several book-length projects for the site as well, including a mnemonics-style cheat book and a "textbook" of ophthalmology, with the goal of bridging the gap between the traditional high-academic works of the highly reputable textbooks and shorter-length review books.  Since those books are going to take me a considerable time to write and prepare (probably several years at the rate I'm going now), I plan to publish those for sale.  However, I still want to make the bulk of the content free, so the articles won't be hidden behind a paywall.

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.

Ciliary Ganglion

The ciliary ganglion serves as the site of synapse for the parasympathetic nerves innervating the eye.  Because of the many nerves that course through it (not all of them synapse!) and its anatomical location, this structure is of importance in learning the basics of ophthalmology.  According to the Basic and Clinical Science Course, it is located lateral to the ophthalmic artery, situated between optic nerve and lateral rectus muscle, approximately 1 cm (10 mm) anterior to the annulus of Zinn and 1.5-2 cm (15-20 mm) posterior to the globe (1-5).

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.

Conditions With Increased Risk Of Glaucoma

This review is somewhat multi-disciplinary in nature. As you wrap up your reviews, one of the things I found useful was to create tons of different lists. Regardless of which test you're studying for, there are many questions that are organized differently than how one might go about learning a particular disease. As such, I started making lists of different ways to group otherwise disparate diseases that might show up as a test question, or at least help me remember a specific feature of the disease.

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.

Causes of Symblepharon

Symblepharon is an external eye finding in which an adhesion forms between the palpebral conjunctiva and bulbar conjunctiva (1).  There are many causes of symblepharon, which is typically a response to trauma or inflammation.

Collagen Types

A considerable amount of the eye is composed of collagen.  Because many eye diseases are related to dysfunction of collagen, it may be useful to categorize these diseases based on the type of collagen and the structures affected.  While this list is not comprehensive, it hopefully is a helpful review.

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.

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).