Ophthalmology Optional Rotation

The eye has played a major role in human genomics. Retinoblastoma (RB1) was the first human cancer gene to be cloned, Leber hereditary optic neuropathy was the first mitochondrial disorder defined, and X-linked red-green color blindness was the first X-linked disorder described. 50% of pediatric blindness is due to a genetic etiology, and the eye is second only to the brain as an organ in its frequency of involvement in genetic disorders.


As part of our training in the second year of the genetic counseling program, we are able to select an optional rotation within a clinic of our choice. I elected to complete my rotation in the Division of Pediatric Ophthalmology, Strabismus and Adult Motility at Children’s Hospital of Pittsburgh of UPMC.  I selected this rotation as a way to expand my knowledge of genetic syndromes and to gain insight into the work of a sub-specialized genetic counselor. This clinic sees patients for a variety of indications including nystagmus (involuntary movement of the eyes), congenital corneal opacities, infantile and pediatric glaucoma, congenital and early-onset cataracts, stationary and progressive retinal diseases, neuro-ophthalmologic conditions, and multisystem disorders with ocular conditions.  The clinic also sees a variety of conditions that may or may not have an underlying genetic cause.


During the rotation I became familiar with ocular terminology as well as testing methods often used in the clinic including fundus photography (pictures of the retina), Visual Evoked Potential (VEP), which measures the brain’s response to visual stimuli, Optical Coherence Tomography (OCT), which uses light waves to take a cross section picture of the retina, and electroretinography (ERG), which measures the responses of the retina to light. When a patient has an abnormal finding from one of these tests, then follow up testing and a consultation with a genetic counselor may be warranted.
 

Because many healthcare providers work together on each case, I was also given the opportunity to see a technician perform an initial visual workup on an incoming patient and to observe VEP and ERG testing. As a student I was also shown images from testing that helped to illustrate signs of disease corresponding with particular genetic disorders. Seeing these procedures allows me to describe to patients what they may expect from an ophthalmological workup.


The department also hosts a weekly department meeting as well as a monthly case conference with the counselors and physicians of Medical Genetics, and at both of these meetings I was able to present on a topic of interest or discuss a particular case.
 

A patient may be referred for genetic counseling for a number of findings, but common indications include developmental abnormalities of the anterior segment that result in corneal opacities or glaucoma, bilateral juvenile cataracts, colobomas (incomplete closure of different structures of the eye), aniridia (absence of iris), retinopathies or retinal abnormalities, retinoblastoma, suspected connective tissue disorders, and unexplained vision loss.  When a patient is referred, they are usually seen by a technician who will test their vision as well as by an ophthalmologist to perform a detailed exam of the front and back of the eye. Based on their findings a patient may be referred for specialized testing and then be seen by a genetic counselor to order genetic testing for whatever condition is suspected. The genetic counselor also has the job of educating physicians within the department about genetic disorders as well as coordinating resources, services, and evaluations for patients with low vision. Finally, clinical trials of gene therapies are currently underway for several ophthalmologic genetic conditions, and the genetic counselor plays a role in sharing these opportunities with their patients who have had genetic testing.

I really enjoyed my experience rotating through Ophthalmology, and I would recommend this rotation to any student who is looking to learn about the roles of sub-specialized genetic counselors and the expanding role of genomic medicine in general healthcare.

- Amy Kunz, class of 2016

Summer in Pittsburgh

Summer is a time to get outside, enjoy the sunshine, and find adventure. Luckily for students in the Genetic Counseling Program, here in Pittsburgh, there is no shortage of ways to take advantage of the warmer season. Check out some of our favorite ways to spend the summer. 

1. Trails

For a city, we have found Pittsburgh to have a surprising amount of green space. There a number of parks, many located near campus and in the neighborhoods where students tend to live. There are miles of trails to explore by foot or bike. You could hike most of the day, and you would never know that you are in the city. Plus, there are also off-leash areas in some of the parks so you can take your dogs on adventures with you. 

2. Public Pools

Pittsburgh has a number of public pools located throughout the city, so there should be one that is convenient to you.  Students can purchase a year pass for $35 or pay the $5 daily rate to access them. The pools have lots of green space to lay out towels, read, and dry off. They really are the best way to spend a lazy afternoon -  just don’t forget your sunscreen!

3. Biking

With so much to explore in the city, it seems like you would never get to see it all on foot, but biking opens up a whole new world. The recent addition of bike lanes has made many roads more bike friendly for both everyday commuting and exploring, and we have taken advantage of it. One of our favorite things to do is bike along the river. While there, it always an adventure to explore downtown: seeing all the murals, finding art installations, and soaking in the vast variety of architecture.  Don’t have your own bike? Don’t worry! Healthy Ride PGH has bike share stations set up in convenient locations, allowing you to rent a bike when you need one and then drop it off when you’re done. 

4. Kayaking

As a city full of bridges it is impossible to forget the rivers! In Pittsburgh, the Allegheny, Monongahela, and Ohio Rivers converge, so there is a lot of water running through the city. There is nothing better than looking at the skyline from the water, complete with Heinz Field and PNC Park. Better yet, there are always student discounts on kayak rentals throughout the summer. 

5. Ohiopyle State Park 

Sometime adventure takes you outside of the city. If that is the case, Ohiopyle should be your destination. Why?  A natural water slide created by the river cutting through 300-million-year old sandstone. If that isn’t enough, the park also boasts white water rafting, camping, horseback riding, hiking, and biking trails. 

6. Summer Events

Throughout the summer there are events hosted in different neighborhoods.  Here are a few to look out for:

• Jam on Walnut: This 3-night event benefits the Cystic Fibrosis Foundation. For one night each month of the summer, Walnut Street is closed and celebrations begin with live music from local bands, food trucks, and vendors added to the great shops that are permanent features.  Who can say no to fun summer nights for a cause? 

• Squirrel Hill Night Market: Murray Avenue is closed down in the evening for a pop up market featuring local artists, craftsmen, and vendors along with live music and food trucks. 

• Open Streets PGH: This community building and fitness event was started by Bike PGH. The idea is to get everyone out and moving by closing the streets to traffic and opening them up for people to walk, run, bike, rollerblade, or skateboard through a 3-mile stretch of the city. There are also salsa lessons, yoga, and group fitness classes, free of charge. 

• Cinema in the Park: Throughout the summer, Schenley Park hosts outdoor movies on Wednesday nights. Other parks throughout Pittsburgh do the same.  Just bring a blanket or a lawn chair to sit back, relax, and enjoy the show. 

- Emily Griffenkranz, Class of 2017