Podcast: Intravitreal Injection Treatment for CEP290-Leber Congenital Amaurosis

Hot off the press! Just last month, in December 2018, results from a clinical trial for a potential new treatment for patients with a blinding inherited eye disease were published in Nature Medicine.

This trial, which studied the effect of an intravitreal injection for patients with Leber congenital amaurosis (LCA) due to mutations in the CEP290 gene, showed promising results, and I was invited to join the popular “Straight From the Cutter’s Mouth: A Retina Podcast” this week to discuss the results. If you’d like to listen to the podcast, it is available at the link above, or directly via the stream below, or on iTunes. I come in around the 12:55 mark, but you should definitely listen to Dr. Ho first, one of the paper’s authors.

Between these results, and those that led to the development of a commercially-available treatment for another type of LCA, the future is bright for patients with inherited retinal disease!

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Stars' Eyes: Casey Harris

You may not know Casey Harris by name, but odds are, you've heard his work:

Casey is the keyboard player for the alternative rock band X Ambassadors. Their hit single "Renegades," a tribute to people with disabilities who use and overcome them to accomplish greatness, came out in 2015, peaked at #17 on the US Billboard Hot 100 chart, and went platinum.

Why was this song so personal for Casey and his bandmates? Because Casey is blind.

He was born with Senior-Loken syndrome, a genetic disease that affects his eyes and his kidneys. Senior-Loken is a type of Leber congenital amaurosis (LCA), a blinding eye disease of childhood. Unlike other forms of LCA, Senior-Loken also affects kidney function; Casey needed a kidney transplant at age 23. At the time of this writing, there is no cure for this condition.

LCA can be caused by mutations in at least 19 different genes, and is usually inherited in autosomal recessive fashion, meaning one "bad copy" of the gene must come from both parents in order for a person to have it. A landmark gene therapy treatment trial has been performed for patients with LCA due to mutations in the RPE65 gene. One of several peer-reviewed publications from this study can be found here.

During my career, I have often been simply awestruck by the incredible accomplishments of patients with severe visual impairments like Casey has. They can do things -- like star in a band, run in the Olympics, be a champion weightlifter or golfer, or a prestigious scholar, to name a few -- that would be impressive for anyone, let alone someone with a disability. Their success helps give hope to others, and I'm grateful to be able to share their stories.

After my ophthalmology residency, I did an extra year of fellowship training in ophthalmic genetics, which gave me the opportunity to see patients with inherited eye diseases like LCA. Working with and learning from my mentors Dr. Edwin Stone and Dr. Arlene Drack at the University of Iowa, I marveled at the perseverance of the people I met, both the patients with the severe eye diseases and the doctors and scientists who had dedicated their lives to helping them. Here in eastern Washington, I have a special clinic just for patients with inherited diseases, and it's one of my favorite parts of what I do.

Here's the official music video of "Renegades," which shows different people with disabilities excelling, overcoming, and dominating. It's just awesome!