Stars Eyes

Stars' Eyes: Vivian Stancil

Between her mother dying when Vivian Stancil was just seven years old, and her father suffering from alcoholism and tuberculosis, you would think that Vivian would have already dealt with her lifetime allotment of challenges before she left grade school. But you’d be wrong.

Or perhaps you’d guess that maybe this girl who started raising her four younger siblings when their father died, before eventually living in three different foster homes, couldn’t possibly bear any more adversity. But again, you’d be wrong.

At age 19, Vivian was diagnosed with retinitis pigmentosa, a genetic eye disease that causes gradual vision loss, and as of this writing, does not have a treatment that can reverse it. Retinitis pigmentosa causes the light-sensing cells in the retina, the rods and cones, to die, and patients with this condition typically experience difficulty seeing especially in dim light, as well as reduced peripheral vision; it can sometimes take away their central vision as well.

Despite all these hardships, Vivian — who is now legally blind — didn’t let life get her down. After earning her degree, she went on to teach kindergarten in southern California for more than two decades. After retirement, unfortunately, Vivian’s problems were far from over, as she experienced depression and became severely overweight, at more than 300 pounds at 5 feet tall.

vivianstancil

Faced with extremely high blood pressure, and told by her doctor that he didn’t expect her to live ten more years, Vivian again beat the odds, by doing something she had never done before: swimming.

Beginning at age 50, Vivian learned to swim, and has taken to the water like, well, a fish. Counting her strokes and listening to the sound of the water hitting the lane markers to tell where she was in the pool — because, remember, she doesn’t have useful vision! — Vivian began to lose weight and become healthier. She’s lost over 100 pounds, and has become a competitive senior swimmer, winning a whopping 271 medals at the local and state level.

“What I want to tell children and adults is, ‘you can be whatever you want to be, if you put your mind to it.’ I have problems just like everybody else, but I don’t allow them to get to me. I want to be able to leave a legacy to my friends and to the community.” - Vivian Stancil, in an interview for Amy Poehler’s Smart Girls website

Stars' Eyes: Danelle Umstead

  Umstead has won three Bronze medals in alpine skiing in the Paralympic Games

Umstead has won three Bronze medals in alpine skiing in the Paralympic Games

Danelle Umstead is used to turning heads as she flies down the alpine slopes. An accomplished skiier, Umstead has made three Paralympic teams and won three bronze medals, an incredible feat for anyone, let alone someone with severely limited vision.

Umstead has a genetic eye condition called retinitis pigmentosa (RP), which affects the photoreceptor cells in the retina — the rods and cones — and has caused Umstead to lose her vision. Like so many people with severe eye disease, she hasn’t let this stop her.

Now, Umstead is turning heads for a different reason. Fulfilling a longstanding dream, she is competing on ABC’s fall season of “Dancing with the Stars,” partnering with Artem Chigvintsev. Umstead is the program’s first visually impaired contestant.

“I have no central vision whatsoever,” Umstead says according to an article on Team USA’s website, and also acknowledges that in her “peripheral vision, there’s big, black blind spots closing into my central. So I just have little pieces left between the two here and there.”

Patients with RP typically experience decreased vision in dim light and reduced peripheral vision, which may progress to involve their central vision as well. At the time of this writing, there is no cure for this disease. However, the future is bright for patients with inherited eye diseases like RP, thanks to the determined research and tireless efforts of many, many patients, scientists, and doctors, who have recently produced the first commercially-available treatment for an inherited eye disease, as I discuss here.

Here’s Umstead’s first performance on Dancing with the Stars, dancing the foxtrot:

Stars' Eyes: Joel Embiid

Joel Embiid, 7'0" star of the Philadelphia 76ers, was back in the lineup tonight after missing a few weeks because of an orbital fracture he sustained in a March 28 game against the New York Knicks during a collision with rookie teammate Markelle Fultz.

  The bones of the orbit (eye socket). Image courtesy of wikipedia.

The bones of the orbit (eye socket). Image courtesy of wikipedia.

The orbit, or "eye socket" in lay terms, is made up of seven different bones, and can be thought of as a room with a floor, walls, and a ceiling. Aside from the obvious opening at the front through which the eye is able to see, there are several other much smaller openings through which nerves and blood vessels pass.

In facial trauma, the bones that make up the orbit, like any other bones in the body, can break. Fractures of the orbit most commonly affect two sites: the thin, inner bones that make up the wall between the eye and the nose, or the bones of the "floor" of the orbit. Fractures of the thicker bones that make up the "rim" at the front of the orbit are more rare, as they require much more force.

Symptoms of orbital fracture may include pain around the eye, displacement (often backward or downward) of the eye itself, double vision, bruising around the eye, inability to move the eye in different directions, or numbness of the cheek. The diagnosis is confirmed by a computed tomogram (CT scan) of the maxillofacial area.

  The oval shows a "blowout" type fracture of the floor of the left orbit.

The oval shows a "blowout" type fracture of the floor of the left orbit.

For patients who have sustained a fracture of the orbit, an ophthalmologist is typically consulted to evaluate the eye, rule out serious vision- or even eye-threatening injuries, and to check for signs of muscle entrapment. The eye has six different muscles that attach to it, allowing it to move in all different directions, and sometimes, when the bones around the eye break, these muscles will get snagged in the fractured bone. When this happens, it usually causes double vision, inability to look up or down, and nausea, vomiting, or low heart rate when the patient tries to look up or down. Muscle entrapment is more common in children, because their bones, more flexible than adults', often break and then "snap back," trapping muscle.

Here's a video of a young patient with an entrapped muscle after an orbital fracture. This patient was seen, and the video created, by my good friends and former colleagues at the University of Iowa, Dr. Jordan Rixen and Dr. Priya Gupta.

The majority of orbital fractures do not require surgery to fix. Conservative treatments often include ice packs, antibiotics, nasal decongestants, and caution to avoid blowing the nose for a few weeks, as this can cause air to get into the eye socket through the fracture, potentially putting undue pressure on the eye and its supporting structures and causing permanent vision loss.

Reasons for a patient to have surgery to fix their orbital fracture include things like persistent double vision, an entrapped muscle, significant enophthalmos (an eye that is "sunken back" into the orbit), or a cosmetically unacceptable appearance. Surgeons typically wait for 1-2 weeks for swelling to subside before performing surgery. However, in cases of muscle entrapment, surgery is much more urgent, as the trapped muscle can lose its blood flow and become irreparably damaged if not promptly freed from the fracture.

Three days following his injury, Embiid's orbital fracture was surgically repaired by Dr. Jurij Bilyk (oculoplastic surgeon) and Dr. Howard Krein (reconstructive head and neck surgeon). No public mention has been made as to whether Embiid suffered from double vision or whether this factored into the decision to have surgery.

Embiid looked sharp in his return to action against the Heat, scoring 23 points and grabbing 7 rebounds in 30 minutes of action, all while wearing a protective mask.

Stars' Eyes: Marcelo Lusardi

There are many things in life that look a lot easier than they actually turn out to be once you try them. Surfing. Golf. Writing poetry.

Skateboarding is one of these things. Have you tried it before? Pretty tough, right? Now, imagine doing it blind.

That's exactly what Marcelo Lusardi, a 19-year-old from Santiago de Compostela, Spain, does, ever since he lost vision a few years ago due to Leber hereditary optic neuropathy (LHON).

LHON is a genetic disorder caused by mutations in mitochondrial DNA. Mitochondria, as you may remember from science class, are the "power houses" of our cells, where energy (ATP) is generated, and they contain special DNA which we all inherit exclusively from out mothers. People with LHON typically develop severe painless central vision loss in one eye, often in their teens or 20s.

As if this weren't devastating enough, the other eye usually follows the same course, losing vision a few weeks or months later. This happens in LHON because the energy production in the optic nerves becomes inadequate, causing the ganglion cells within the nerve to die. Although supplementary coenzyme Q-10 (idebenone), combined with avoidance of alcohol and tobacco, may prevent further vision loss, there is at present no way to restore vision for a person who has lost it due to LHON.

Here is a poignant video about Marcelo, entitled "The Blind Rider." My favorite part? 

I used to skateboard. I went blind. I’m still skateboarding. . . . I realized that skateboarding was what I love most in life, and that I was going to keep doing it, come what may.

Stars' Eyes: Abraham Lincoln

Widely regarded as perhaps the greatest of the Presidents of the United States of America, Abraham Lincoln held office during the Civil War, from 1861 until his assassination in 1865. Many aspects of Lincoln's life -- from his humble beginnings in Kentucky and Indiana, to his practicing law before becoming a leader in the nascent Republican party -- are well known. But did you know that he also had strabismus?

lincoln strabismus

Look carefully at this image. Notice how his left eye appears to be looking higher than his right. This is suggestive of a vertical strabismus (eye misalignment), as are the reports that Lincoln suffered from double vision and that his left eye would "roll upward when he was excited or tired."

The intermittent nature of this symptom is consistent with either an intermittent left hypertropia or a dissociated vertical deviation. Both of these conditions are easily diagnosed by a pediatric ophthalmologist, and treatment options may include prisms glasses or corrective surgery.

Because of his very tall, thin stature, many historians have suggested that Lincoln had a condition called Marfan syndrome, a genetic disease which affects the connective tissues in the body. People with Marfan syndrome are typically very tall, thin, and "loose jointed." They are more likely to have strabismus, and may also develop early cataracts, glaucoma, corneal problems, or retinal detachments.

Note: Special credit to my partner, Dr. Jeffrey Colburn MD, of the Spokane Eye Clinic, for making me aware of President Lincoln's strabismus.

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!

Stars' Eyes: Babe Ruth

  Many people don't know that Babe Ruth had severe amblyopia.

Many people don't know that Babe Ruth had severe amblyopia.

You probably know that George Herman Ruth Jr., also known as Babe, The Great Bambino, and The Sultan of Swat, was indisputably one of the greatest baseball players of all time. You may know that he came up with the Boston Red Sox before joining the New York Yankees. You might even know that began his career as a pitcher.

But did you know he had 20/200 vision in his left eye? Shocking, isn't it?

After his playing days were over, Ruth was examined by Dr. Gerald Kara, who found that the prolific slugger had surprisingly poor vision in his left eye (and 20/15 vision in his right), which Dr. Kara attributed to amblyopia. Because Ruth said he had never had an eye exam before, it is theoretically possible that his poor vision developed after his career was over, but Dr. Kara found no evidence that this was the case.

Amblyopia is the most common cause of reversible vision loss in children, affecting between 3-5% of all kids. It is defined as decreased vision due to abnormal development of vision in childhood, typically in one eye, and most commonly occurs due to unrecognized need for glasses or due to eye misalignment (strabismus). It is treated sometimes with glasses wear, and most frequently by patching the child's better-seeing eye. This forced use of the amblyopic eye helps the neural connections between the eye and brain develop properly, allowing for better vision.

I love treating amblyopia. Seeing a child start with one eye that doesn't see well at all, and then, over a period of months, thanks to the diligent work of the patient and parents in helping him/her keep the patch on, watching the vision improve -- it's a very gratifying experience.

With regard to Ruth, he is just one of the countless examples of people with a vision problem overcoming their circumstances and excelling in life.

Stars' Eyes: Jeremy Poincenot

Over the past year or so, on my Facebook and Instagram accounts, I've shared dozens of short posts with the tag "Stars Eyes Sunday," describing a famous person with an eye disease. These were popular posts, and I plan to continue sharing similar stories on this blog. Here's the first!

Jeremy Poincenot ("Points-en-oh") was a 19-year-old college sophomore at San Diego State when he suddenly lost his central vision in his right eye, followed shortly thereafter by his left. He was diagnosed with a rare optic nerve disorder, called Leber hereditary optic neuropathy (LHON).

LHON is a genetic condition caused by mutations in the DNA within mitochondria. Patients with LHON typically develop sudden, painless, central vision loss in one eye, followed weeks later by the other eye. The likelihood of developing LHON in a person who carries the mutation depends in part on what fraction of their mitochondria, the energy-producing organelles within each cell, harbor the genetic change. LHON occurs most frequently in young males, but females and much older patients can be affected, as well.

Jeremy hasn't let his severe vision loss hamper his love of the links. In fact, just today, he won the United States Blind Golf Association's National Championship! Jeremy has been featured on ABC's 20/20, MTV, and GolfWorld, and his website can be found here.

 Jeremy Poincenot, winner of the 2016 US Blind Golf Championship, as shared on his  Twitter account .

Jeremy Poincenot, winner of the 2016 US Blind Golf Championship, as shared on his Twitter account.