Ocular Genetics at the Spokane Eye Clinic

At the 2017 meeting of the American Association for Pediatric Ophthalmology and Strabismus, Dr. Alex Levin, pediatric ophthalmologist at Wills Eye Hospital, pointed out that there are only 70-80 ocular geneticists in the world. Dr. Levin himself is one, and so am I. Having completed a year of inherited eye disease fellowship at the University of Iowa with experts like Dr. Edwin Stone, in addition to working as a comprehensive pediatric ophthalmologist and taking care of every type of childhood eye problem, I now dedicate part of my practice to patients with rare, blinding diseases of childhood. I'm happy to be able to offer this service to the region, as area patients formerly had to go to Seattle or Portland to receive this specialty care.

At the Spokane Eye Clinic, my pediatric inherited eye disease clinic takes place once each month, and they are some of my favorite days of work. I schedule just a few patients that day, so that each patient can receive the same high-quality, comprehensive care that I learned to provide in fellowship.

The evaluation begins even before the patients arrive, with a review of the medical record from the patient's referring eye doctor. I read and assess the available information and develop an individualized plan for each patient's visit. Upon arrival, a member of our team initiates the eye exam, and then I visit with each family and take a thorough history, focusing on when the first symptoms began, what they were, how they have changed over time, any prior diagnoses that have been made or genetic testing that has been done, the family history, and several other points.

The Spokane Eye Clinic has built a diagnostic testing suite with specialized equipment that rivals that typically found in an academic medical center.

In fact, the machines we use here are the exact same that I used at the University of Iowa! Some of the advanced technology that I routinely use in the inherited eye disease clinic includes the following:

  • Kinetic visual fields: Whereas standard visual field machines like the Humphrey are designed to check for glaucoma and typically test the patient's central-most vision, the Octopus perimeter allows for the patient's far peripheral vision to be evaluated as well. This is crucial for patients with inherited eye diseases, because these conditions often affect peripheral vision first.
  • Heidelberg Spectralis optical coherence tomography (OCT): The advent of OCT was a revelation within ophthalmology. Equivalent to an ultrasound that uses light instead of sound, OCT allows for detailed imaging of different areas of the eye. This quick, painless test gives a cross-sectional image of the patient's retina, allowing me to see the photoreceptor cells (rods and cones) which are damaged in many inherited eye diseases -- sometimes before the patient has developed any symptoms.
  • Topcon and Optos fundus cameras: These state-of-the-art cameras let our specialized photographers take pictures of the patient's retina, capturing nuances and providing a baseline against which future eye exams may be compared. With the Topcon, our photographers can take several shots and electronically "stitch" them together into a montage image, like you see below. The Optos, an even newer technology, can be a great option to get a quick montage-like image, especially from a wiggly child!
Montage fundus image taken with a Topcon camera

Montage fundus image taken with a Topcon camera

The Diagnosys ERG unit

The Diagnosys ERG unit

  • Electrophysiology equipment, including electroretinography (ERG), multifocal electroretinography (mfERG), and visual evoked potential (VEP). This highly specialized equipment measures the function of the patient's retina and optic nerve. Our ERG and VEP technology is top-of-the-line, and the only setup of its kind in the inland northwest region.

After a detailed history, eye exam, and any diagnostic testing that may be helpful, I review the likely diagnosis with the patient's family and we formulate a plan. This plan could include additional specialized testing, examining family members, or performing genetic testing to identify the change in the patient's DNA that has led to their eye problem. Individualized treatment of patients with inherited eye diseases, with the goal of restoring vision or preventing additional loss, is an exceedingly promising area of research, and dramatic advances have already been made. As additional trials and treatments become available, I will work with the academic medical centers -- like the University of Iowa -- where these are offered, to get my patients "plugged in."