Glaucoma Genetics

[et_pb_section bb_built=”1″][et_pb_row][et_pb_column type=”4_4″][et_pb_text admin_label=”Introduction” _builder_version=”3.0.71″ background_layout=”light” text_orientation=”left” border_style=”solid”]

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:

  • Many cases have an autosomal dominant inheritance pattern.
  • There is incomplete penetrance.
  • Environmental factors play a large role in the expression of glaucoma.
  • Family history is a risk factor for the development of primary open angle glaucoma (POAG).
  • 10% of glaucoma patients have siblings with glaucoma.

[/et_pb_text][et_pb_text admin_label=”Genetics” _builder_version=”3.0.71″ background_layout=”light” text_orientation=”left” border_style=”solid”]

Glaucoma Genes

There are many genes that have been identified in various forms of glaucoma. While genetic testing for glaucoma is not commonplace, many of these genetic markers do provide some insight into the different mechanisms and components that affect the phenotype we call glaucoma.

While this list is not comprehensive, it highlights a few of the key genotypes that we know contribute to the formation of glaucoma.

Open Angle Glaucomas (GLC1)

Many of the open angle glaucoma genes carry the GLC1 designation, with subtypes lettered following GLC1: GLC1A, GLC1B, etc. This nomenclature may help make it a bit easier to remember what type of glaucoma a particular gene encodes for. As of the American Academy of Ophthalmology’s 2016-2017 Basic and Clinical Science Course publication, there are genes listed for GLC1A-GLC1K.

Primary Open Angle Glaucoma


The GLC1A gene, which is also called the Trabecular meshwork Inducible Glucocorticoid Response/MYOCillin gene (TIGR/MYOC), encodes the TIGR/myocillin protein, which is found within the trabecular meshwork. It was the first gene identified for POAG, and is located on chromosome 1 (“first gene discovered, first subtype [GLC1A], found on chromosome 1″).

3% of POAG patients carry the GLC1A gene, and it is transmitted in an autosomal dominant fashion.


The GLC1C gene is found on chromosome 3 (“C is the 3rd letter of the English alphabet, chromosome 3”). It is associated with a late-onset primary open angle glaucoma that causes high pressure and is only moderately responsive to medications.


The GLC1G gene is found on chromosome 5. It is also known as the WDR36 gene.

Normal Tension Glaucoma

There are 2 genes that have been described in normal-tension (low pressure) glaucoma: GLC1B and GLC1E. A helpful mnemonic for remembering these genes is “BE normal,” which refers to the subtypes of the two genes, B and E.


The GLC1B gene is located on chromosome 2 (“B is the second letter of the English alphabet, chromosome 2”).


The GLC1E gene is located on chromosome 10. It encodes for the optineurin protein, which is why the other designation for this gene is OPTN (“op-ten-neurin” is a way to help remember the chromosome for this gene).

Secondary Open Angle Glaucomas

Pseudoexfoliation glaucoma (LOXL1)

Pseudoexfoliation syndrome (PXE) is a systemic condition in which there is deposition of a fibrillar material throughout the body, especially in the anterior segment, and is the most common secondary open angle glaucoma. It is associated with the LOXL1 gene, located on chromosome 15.

Pigment Dispersion Syndrome (GPDS1)

Pigment dispersion syndrome (PDS) is another fairly common cause of secondary open angle glaucoma most typically found in young myopic males. The GPDS1 gene, located on chromosome 7, is associated with PDS.

Angle Closure Glaucoma (GLC2)

There is a gene associated with primary angle closure glaucoma, termed GLC2. It is found on chromosome 11, and there are several different mutations, resulting in both autosomal dominant and autosomal recessive forms.

Congenital and Pediatric Glaucomas

Congenital Glaucomas (GLC3)

There are many causes of congenital glaucoma, with currently 4 genes identified. These genes all start with GLC3 and are lettered A-D (GLC3A, etc.). Unlike almost all of the rest of the glaucoma genes, which are inherited in an autosomal dominant pattern, congenital glaucoma genes are inherited in an autosomal recessive pattern.

One way to help remember that congenital glaucoma is GLC3 is by remembering that congenital glaucoma presents in a triad of blepharospasm, epiphora, and photophobia.


GLC3A has been identified as encoding the CYP1B1 gene and is found on chromosome 2.


GLC3B is found on chromosome 1.


GLC3C and GLC3D are found on chromosome 14.

Pediatric Glaucomas

There are several syndromes that are associated with the presentation of glaucoma in childhood. While many of these conditions are associated with anterior segment dysgenesis, this is not the only pathogenesis for glaucoma in childhood. A few of these conditions are listed here.

Nanophthalmos (NNO1, VMD2, MFRP)

There are several genes associated with the formation of nanophthalmos, all of which are found on chromosome 11. NNO1 and VMD2 are inherited in an autosomal dominant pattern, and MFRP is inherited in an autosomal recessive pattern.

I need to do some more digging, but I believe that the VMD2 gene on chromosome 11 is the same gene associated with Best vitelliform dystrophy of the retina. If so, it’s an interesting connection.

Axenfeld-Rieger Syndrome (RIEG1/PITX2, RIEG2, IRID1/FOXC1)

Axenfeld-Rieger syndrome is a spectrum of anterior segment dysgenesis that can be caused by many different genes, all inherited in an autosomal dominant pattern. RIEG1, or PITX2, is found on chromosome 4, RIEG2 is found on chromosome 13, and IRID1, or FOXC1, is found on chromosome 6.

Nail-Patella Syndrome (NPS/LMXB1)

Nail-patella syndrome (NPS) is a rare condition that primarily affects the nails, knees, elbows, and pelvis. However, it has been implicated in childhood glaucoma, and thus has been on the list of conditions associated with glaucoma. The gene associated with nail-patella syndrome is LMX1B, and is found on chromosome 9.

[/et_pb_text][et_pb_text admin_label=”Summary” _builder_version=”3.0.71″ background_layout=”light” text_orientation=”left” border_style=”solid”]

Essentials To Know

Here are some key points to remember:

  • Almost all of the glaucoma genes, with the noted exception of congenital glaucomas, are inherited in an autosomal dominant pattern.
  • Congenital glaucomas (GLC3) and the MFRP variant of nanophthalmos are inherited in an autosomal recessive pattern.
  • Normal tension glaucoma genes are GLC1B and GLC1E (“BE normal”).
  • The first gene identified in open angle glaucoma, GLC1A, is located on chromosome 1 and encodes the TIGR/myocillin protein (“TIGR is number 1”).

[/et_pb_text][et_pb_text admin_label=”Summary Table” _builder_version=”3.0.71″ background_layout=”light” text_orientation=”left” border_style=”solid”]

Summary Table

[table id=1 /] [/et_pb_text][et_pb_text admin_label=”References and Additional Reading” _builder_version=”3.0.71″ background_layout=”light” text_orientation=”left” border_style=”solid”]

References and Additional Reading

  1. American Academy of Ophthalmology. Basic and Clinical Science Course, Section 10: Glaucoma. 2016-2017 ed. San Francisco: American Academy of Ophthalmology, 2016:10-11.
  2. Nail-Patella Syndrome. Genetics Home Reference, National Library of Medicine, National Institutes of Health. Website.
  3. Allingham RR, Liu Y, Rhee DJ. The genetics of primary open-angle glaucoma: a review. Exp Eye Res. 2009;88(4):837-844.
  4. Stone EM, Fingert JH, Alward WL, et al. Identification of a gene that causes primary open angle glaucoma. Science. 1997;275(5300):668-670.
  5. Wolfs RC, Klaver CC, Ramrattan RS, van Duijn CM, Hofman A, de Jong PT. Genetic risk of primary open-angle glaucoma: population-based familial aggregation study. Arch Ophthalmol. 1998;116(112):1640-1645.

[/et_pb_text][et_pb_divider _builder_version=”3.0.71″ show_divider=”on” divider_style=”solid” divider_position=”top” hide_on_mobile=”on” color=”#000000″ /][et_pb_text admin_label=”Tag” _builder_version=”3.0.71″ background_layout=”light” text_orientation=”left” border_style=”solid”]

Do you have any other tips on how to remember glaucoma genetics? Leave a comment or e-mail us at!


BCSC Reading: Week 10

Week 10 Reading Assignment and Statistics

Reading Plan Book/Chapters Topics Pages Total Pages Pages/Day
AAO* Retina and Vitreous 16-End Vitreous disease, retinal surgery 289-380 91 13
Ophthalmology Review** Glaucoma 5-8 Angle closure glaucoma, childhood glaucoma, management 109-212 103 15

*The AAO reading schedule is based off the 2016-2017 BCSC series, available starting June 15, 2016.

**My reading schedule is based off the 2012-2013 BCSC series, as I do not own the new editions.

Week 10 Overview

In this week’s reading, you will finish up the Retina book if you’re following the AAO plan, and you will finish up the Glaucoma book if you’re following my plan.

The AAO Plan:

This section covers diseases of the vitreous and vitreoretinal interface.  Even though there aren’t that many conditions you need to know in this section, there are a lot of very common things you need to understand (like epiretinal membranes, macular holes, etc.).  There are also a few other diseases of the vitreous that are rarer but have systemic associations.

Ophthalmology Review Plan:

Angle closure glaucoma, childhood glaucoma, and glaucoma surgeries round out the last bit of the Glaucoma book.

Week 10 Tips and Helpful Resources

For tips and resources on reading these sections, please check out the following pages (I will be working on developing more content for this section):

BCSC Reading: Week 9

Week 9 Reading Assignment and Statistics

Reading Plan Book/Chapters Topics Pages Total Pages Pages/Day
AAO* Retina and Vitreous 8-15 ROP, choroid disease, inflammatory retinal and choroidal disease, congenital and stationary retinal disease, hereditary retinal and choroidal dystrophies, retinal degenerations associated with retinal disease, RD, diseases of vitreous 157-288 132 19
Ophthalmology Review** Glaucoma 1-4 Aqueous dynamics, glaucoma exam, open angle glaucoma 3-108 109 16

*The AAO reading schedule is based off the 2016-2017 BCSC series, available starting June 15, 2016.

**My reading schedule is based off the 2012-2013 BCSC series, as I do not own the new editions.

Week 9 Overview

In this week’s reading, some of the more obscure retinal and choroidal diseases are covered in the AAO reading, including the white dot syndromes and retinochoroidal hereditary dystrophies.  However, there are also some very commonly seen conditions, such as ROP, central serous retinochoroidopathy, and retinal detachment.  Now, since I don’t actually own a copy of the new version of the BCSC, the chapter numbering is different – so it’s very possible I am completely off base about this summary.  The first section of Glaucoma is covered if you’re following my reading plan.

The AAO Plan:

Definitely know the common conditions.  I think part of the challenge when reading a lot of these books is getting a sense of just how rare some things are in comparison to others.  Obviously diseases that have their own chapter should imply some level of importance.  ROP is another one of those conditions in which there has been and continues to be tons of research.  As technology allows babies to survive at younger and younger gestational ages, we are learning a lot more about retinal and visual development.  So in my opinion, knowing the ROP studies and how to apply them is probably an important thing to know.  Likewise, knowing the risk factors for RD and how to manage a patient with high risk for RD is important.

Ophthalmology Review Plan:

As I covered in the AAO plan when reading through Glaucoma, knowing the studies and how to apply them is very important.  This reading strategy splits up open angle glaucoma and angle closure glaucoma, which relieves some of the burden of trying to assimilate all of the secondary causes of both.

Week 9 Tips and Helpful Resources

For tips and resources on reading these sections, please check out the following pages (I will be working on developing more content for this section):

  •  This is a great resource for learning gonioscopy – a perfect time to review while reading through Glaucoma.

BCSC Reading: Week 7

Week 7 Reading Assignment and Statistics

Reading Plan Book/Chapters Topics Pages Total Pages Pages/Day
AAO* Glaucoma 6-End Childhood glaucoma, medical and surgical management of glaucoma 147-240 93 13
Ophthalmology Review** Cornea 9-11, 14 Congenital anomalies, corneal dystrophies, metabolic disease, corneal surgery 249-330, 387-406 102 14

*The AAO reading schedule is based off the 2016-2017 BCSC series, available starting June 15, 2016.

**My reading schedule is based off the 2012-2013 BCSC series, as I do not own the new editions.

Week 7 Overview

This week rounds out glaucoma (if you’re following the AAO plan), or touches on rarer yet very striking corneal disease (if you’re following the plan I used).  Understanding the medical and surgical management of glaucoma is a very important topic, while recognizing every single corneal dystrophy might not be as necessary to clinical practice.  For this week, supplemental materials may be very helpful, depending on how much you feel like you need to know in order to understand/classify all of the information in these sections.

The AAO Plan:

There are a few very crucial details to know and understand about childhood glaucoma as a comprehensive ophthalmologist (specifically recognizing it and knowing both what to do and what NOT to do in management).  While I am working on a chapter-by-chapter run-down, I did want to encourage you to spend a decent amount of time learning the medical and surgical management of glaucoma.  Treatment practices are going to vary dramatically depending on your training, geography/regional sub-culture, patient population, and availability of resources.  I think that’s why the AAO didn’t outright spell out “this is the way we would like all ophthalmologists in training to learn how to treat glaucoma,” but rather describe all of the treatment options so that no matter where you practice and who you train with, you will be familiar with all of the different treatment options so that you can provide patients with the most accurate information.

Ophthalmology Review Plan:

This week’s reading assignment covers everyone’s favorite topic, corneal dystrophies.  These diseases have very unique clinical findings, which should make it pretty easy to recognize.  Despite the rarity of many of these dystrophies, there has been significant knowledge gained about their genetics and metabolism.  Also, it’s important to remember that EBMD (formerly map-dot-fingerprint dystrophy) and Fuchs endothelial corneal dystrophy are extremely common in clinical practice and they are covered in this section as well.  Corneal ectasias are also detailed here, so understanding keratoconus is important.  This is one of the first readings where there are a lot of systemic disease correlations, which is very important because if you see a patient with one of these corneal diseases, you may also have to review their medical history in greater detail.

Week 7 Tips and Helpful Resources

For tips and resources on reading these sections, please check out the following pages (I will be working on developing more content for this section):

BCSC Reading: Week 6

Week 6 Reading Assignment and Statistics

Reading Plan Book/Chapters Topics Pages Total Pages Pages/Day
AAO* Glaucoma 1-5 Principles of intraocular pressure and aqueous dynamics, glaucoma exam, open angle glaucoma, angle closure glaucoma 1-146 147 21
Ophthalmology Review** Cornea 6-8; Fundamentals 12-14 Corneal immunology, corneal neoplasia; vitreous/retina/RPE physiology 173-248 (Cornea); 283-310 (Fundamentals) 104 15

*The AAO reading schedule is based off the 2016-2017 BCSC series, available starting June 15, 2016.

**My reading schedule is based off the 2012-2013 BCSC series, as I do not own the new editions.


Since there are multiple ways to read through the BCSC, I decided to format the reading schedule based on weeks, rather than post multiple reading events.  This also allows me to reuse these events every year, instead of creating this again next year.

The two featured reading schedules are adapted from Dr. Brian T. Chan-Kai’s article on the American Academy of Ophthalmology’s website, and the reading schedule my colleagues and I used in residency.  While my reading schedule may typically seem a bit lighter, keep in mind that Dr. Chan-Kai’s schedule takes less time (31 weeks vs. 34 weeks), and goes through 12 of the 13 texts (mine covers 11 of 13).

Additionally, Dr. Chan-Kai starts the reading two weeks into the new residency year (presumably to allow for orientation and such).  I am going to start the reading schedule on this site on July 1 for simplicity, and also to allow for a few weeks of review at the end before the OKAP.  Obviously, these are all guidelines, and you can adapt the schedule however you see fit.

For someone wanting to read through the BCSC in a year to study for the ABO Written Qualifying Exam, this reading schedule should be modified, in that the written board exam doesn’t test on Section 1:  Update on General Medicine or Section 2:  Fundamentals and Principles of Ophthalmology.

Week 6 Overview

This week’s reading, regardless of the reading plan, begins the deep dive into the bulk of ophthalmic disease.  Impressively, by this point, if you have followed the AAO’s reading schedule, you will have already completed reading 2 BCSC textbooks (Fundamentals, Lens and Cataract)!  If you follow the plan I used, you will finally be done reading through Fundamentals this week, just as you begin learning about some very interesting corneal diseases.

If you haven’t started figuring out a way to mentally organize eye diseases, this is probably your last chance to start a “review as you go” strategy without getting super far behind.  Obviously, both glaucoma and corneal disease are very high-yield topics (not just for tests but also clinically), and the wider and deeper your base of knowledge, the better you’ll be at recognizing atypical disease and deciding when to broaden your differential diagnosis.

The AAO Plan:

The first few chapters of the Glaucoma book do a wonderful job of explaining aqueous dynamics and the theory of how we understand the manipulation of intraocular pressure, then describing the clinical progression of glaucoma (regardless of the etiology).  Chapters 4 (open angle glaucoma) and 5 (angle closure glaucoma) are incredibly high-yield when it comes to both the classification of glaucoma as well as learning how to properly manage patients with glaucoma.  I will be writing up more detailed chapter tips at some point, but be sure to pay attention to the glaucoma studies that are reviewed, as these studies form the basis of how we understand risk factors and management of glaucoma.  From these two chapters you should become very comfortable formulating a general approach to classifying glaucoma and recognizing the various causes of increased intraocular pressure.  This is one of those crucial weeks where understanding is vital, so be willing to spend extra time reading through each chapter.

Ophthalmology Review Plan:

This week’s reading assignment covers corneal inflammations and neoplasia, and finishes up Fundamentals.  Dry eyes, corneal infections, and corneal inflammations are incredibly common in clinical practice, so being comfortable recognizing these different diseases and their findings, as well as having a logical approach to treating these diseases, will help keep you from developing gastric ulcers when trying to decide what to do with that Pseudomonas corneal ulcer on call.

Week 6 Tips and Helpful Resources

For tips on reading these sections, please check out the following pages (I will be working on developing more content for this section):

  •  For those reading through the Glaucoma book, this is a great time to learn gonioscopy clinically if you haven’t already.  Because the videos and images here are very detailed with narration, it can be a great supplemental resource to use while trying to understand everything you’re reading.

Review, Glaucoma: Conditions With Increased Risk Of Glaucoma

Best of luck to all those taking the ABO’s Written Qualifying Exam this weekend! I’m on vacation this week for Spring Break, so I haven’t been able to post as many reviews as I was hoping to before the exam.

In any case, I’m going to try to post a few more generalized reviews, as I have a little bit of time before my family and I go do some more vacationy stuff.


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.

Because glaucoma is a potentially sight-threatening/blinding disease, it is important to know if a particular condition is associated with glaucoma in any way, so that appropriate screening can be initiated. While the following list is by no means comprehensive, it is a list that I started putting together while I was studying for the OKAP.

Another caveat is that each individual condition will likely be featured as many individual articles in the future. For the sake of brevity (which I have a hard time doing), I am purposefully not including significant details about each disease. I am still going to try to include images of each condition, since repetition and visual pattern recognition are vital to review, and I will try to include details about the pathophysiology of glaucoma and some basic information about each condition. Hopefully this list can serve as yet another scaffold for you to remember the copious amounts of information needed for testing and clinical practice.

For those who want to skip the pictures, I made a little summary table at the bottom of the article. Hope it helps! Continue reading “Review, Glaucoma: Conditions With Increased Risk Of Glaucoma”

Review, Pediatric Ophthalmology: 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.

Facial signs in fetal alcohol syndrome.
Image from: The National Institutes of Health.

Continue reading “Review, Pediatric Ophthalmology: Fetal Alcohol Syndrome”

OKAP Review, Pediatric Ophthalmology: 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.


Image from AAPOS.

As the figure states, aniridia refers to the absence of the iris.  In most cases, there can be a residual stump or only partial aniridia; complete absence of the iris is actually less common.

Inheritance and Genetics

  • PAX6:  PAX6 is a transcription factor for eye development.  It is inherited in an autosomal dominant pattern, and its disruption is the most common cause of aniridia.
  • PAX6 gene mutations are an example of haploinsufficiency – for some proteins, both genes need to be functioning normally to produce a normal result.
  • In rare cases, aniridia can also be inherited in a sporadic or autosomal recessive fashion.  De novo mutations are associated with Wilms tumor (see below).

Continue reading “OKAP Review, Pediatric Ophthalmology: Aniridia”

Preparing For The Written Board Exam, Part 2

Now that we’ve discussed the basics of the written board exam, let’s talk a little bit about the content.

As mentioned on the ABO website, the written qualifying exam (WQE) assesses the following topics (in alphabetical order):

  • Cataract and Anterior Segment
  • Cornea and External Disease
  • Glaucoma
  • Neuro-Ophthalmology and Orbit
  • Oculoplastics and Orbit
  • Ophthalmic Pathology and Oncology
  • Pediatric Ophthalmology and Strabismus
  • Refractive Management and Optics
  • Retina and Vitreous
  • Uveitis

Fortunately, the AAO’s Basic and Clinical Science Course sections are organized in a very similar topical arrangement.  The ABO even provides a content outline for your personal use to get a sense of what topics you should review.  So while the ABO’s 76-page outline should be a more-than-sufficient start to your review, this article will focus more on what sections in the BCSC are helpful to review.  The ABO’s outline specifies in detail the individual testable items (each section has more items than the total number of questions possible on the test).  While it should be mostly common-sense, I know I wish I had an easy-to-reference list of chapters/topics that I could use to review the material.

*Disclaimer:  I don’t remember test questions on the written exam (it’s been a few years), so please don’t take my reading suggestions as fully comprehensive.  I’m sure that there will be topics that I will recommend to focus on that won’t show up on the test at all, and there will be questions on the test that aren’t in my list of things to know.  When in doubt, use the ABO’s content outline!

*Note:  Because I do not own the most recent versions of the BCSC, some of the chapters and topic divisions will not be entirely accurate.  If you have the most recent edition of the BCSC (2015-2016) and would like to provide us with the updated information, leave a comment or send an e-mail to ophthreview [at] gmail [dot] com!

*Note #2:  Because each section breakdown is pretty lengthy, I’m going to split this post up into several segments for easier reading. Continue reading “Preparing For The Written Board Exam, Part 2”

BCSC Reading: Week 22

Week 22 Reading Assignment and Statistics

Reading Plan Book/Chapters Topics Pages Total Pages Pages/Day
AAO* Pediatric Ophthalmology/Strabismus 22-28;
Refractive Surgery 9-11
Pediatric glaucomas, systemic diseases; Presbyopia, post-refractive surgery management 282-382;
142 21
Ophthalmology Review** Pediatric Ophthalmology/Strabismus 9-13, 25;
Uveitis 5
Alphabet-pattern strabismus, management of strabismus; Clinical approach to uveitis 107-164;
112 16

*The AAO reading schedule is based off the 2015-2016 BCSC series, available starting June 15, 2015.

**My reading schedule is based off the 2012-2013 BCSC series, as I do not own the new editions.

Week 22 Overview

In this week, you’ll be continuing to work through topics in pediatric ophthalmology and refractive surgery if you’re following the AAO plan, and you’ll be finishing up the strabismus section of the Pediatrics book and starting Uveitis if you’re following ours.

The AAO Plan:

As previously stated, pediatric ophthalmology is a great review of all the other topics.  I would strongly recommend reading these sections alongside with the texts covering the corresponding subjects.

With more people having refractive surgery than ever before in the U.S., knowing how to manage ocular diseases in the post-refractive surgery state is very important to understand.  While I have no first-hand knowledge about how “testable” this is, I think that from a clinical knowledge standpoint it’s something any ophthalmologist should be comfortable recognizing and managing.

Ophthalmology Review’s Plan:

Strabismus management can be summarized into some general steps:

  1. Identify the pattern and determine the differential diagnosis
  2. Diagnose the condition
  3. Treat any underlying problem
  4. Optimize amblyopia (in children)
  5. Once deviation is stable:
    1. Observe (not acceptable in children of amblyogenic age)
    2. Prism glasses
    3. Surgery

It is important, though, to know the basics of how to manage patients, both for amblyopia and for strabismus.  There are some special cases of strabismus and some specific surgeries that you probably should know for testing purposes (or if you’re going into pediatric ophthalmology or neuro-ophthalmology).  We also tossed in Botox injections into this section as well.

After completing the strabismus section, we actually set aside the pediatrics book until review season (for reasons previously noted).  Uveitis is the next book up – we actually skip the first 4 chapters in our reading schedule because it is primarily theory that is hopefully a review of our immunology courses in medical school.  While it’s not required reading on our schedule, chapters 1-4 can be useful as a refresher, and offer some useful clinical correlations that help tie in those immunologic principles with ophthalmology.  Keep in mind that there may be “testable” material present in chapters 1-4, but in terms of overall “yield” the details listed here may not be as useful as others to learn.

Week 22 Tips and Helpful Resources

For tips and resources on reading these sections, please check out the following pages (I will be working on developing more content for this section):