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