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Champions of Change-Blind Equestrian Forms Lifelong Partnership with UK HealthCare to Meet the Challenges of Rare Eye Disease

Posted at 12:03 PM, Aug 10, 2018
and last updated 2018-08-17 10:13:09-04

By Ann Blackford

LEXINGTON, Ky. (Oct. 4, 2017) –  When Alexis Johnson, a 22-year-old avid equestrian and resident of Versailles, Ky., prepares to jump with her horse Joey in competition, she is keenly focused on what lies before her. There are no distractions, no nervousness or fear. Everything around her is in shades of gray and the only sound she hears is the rhythmic pace of Joey’s hooves as he begins to canter.

About 20 feet away, the outline of the fence comes into Johnson’s view as Joey converts his forward momentum to an upward momentum. Like a coiling spring, his front legs push up and he is airborne over the fence. It is in these brief few seconds that Alexis Johnson feels like she is flying; a feeling of pure joy and exhilaration. Her limitations are non-existent. It doesn’t matter that she is legally blind.

Twenty-two years ago, Lynn Johnson was standing outside on a sunny day holding then eight-month-old Alexis when she noticed the pupils of her eyes were so large that Lynn was afraid the sun would burn them. Alexis squinted her eyes a lot in bright light. There were also repetitive rapid eye movements and one eye was turned inward. Lynn took Alexis to a general ophthalmologist but wasn’t satisfied with the lack of answers. She made an appointment with Dr. Julia Stevens, associate professor at the University of Kentucky Department of Ophthalmology and Visual Sciences, for a second opinion. Not only did Lynn Johnson find answers, she found a physician who would provide healthcare and support for Alexis throughout her life.

After several tests to rule out brain injury, an electroretinography (ERG) confirmed a diagnosis of congenital achromatopsia, a rare hereditary disease that affects only one in 33,000 people in the U.S.

An ERG examines the light-sensitive cells of the eye, the rods and cones, and their connecting ganglion cells in the retina. When Alexis was tested 22 years ago, a large contact lens was placed on her eye to measure the light responses in her retinas. Today, UK Advanced Eye Care has the most technically sophisticated ERG technology available anywhere, which offers significant advantages over the prior system. The new ERG machine provides much easier testing with comfortable fitting electrodes that can sit on the skin or on the surface of the eye, highly sensitive and reproducible signal recording, and a large library of tests that can be used to determine problems in the visual pathway that are important to understanding why patients are experiencing vision loss. UK Advanced Eye Care recently acquired a new smaller ERG machine that can be easily taken into the operating room and to other locations throughout the hospital to test for diseases of the retina and optic nerve.The current equipment can be used to obtain ERGs on babies and toddlers without having to use sedation, as the system is handheld and can be easily positioned over the patient’s eye during testing.

“We were fortunate because UK was one of the few facilities to have an ERG,” Lynn Johnson said. “The wires that record the natural responses to light showed that Alex had no response to light. The line on the screen was flat.”

Stevens explains that achromatopsia is an autosomal recessive disease, meaning two copies of a mutated gene must be present in the affected person.

“Both parents must be carriers and their child will inherit one recessive gene from the mother and one from the father,” Stevens said. “In the retina of normal eyes, there are six million cone photoreceptors in the center of the retina and 100 million rod photoreceptors located in the periphery. Cone photoreceptors provide our color vision and our fine vision.  Individuals with achromatopsia have non-functioning cones and rely on rods for their vision. Rods do not function well in daylight, thus people with achromatopsia have extreme sensitivity to light, poor color vision, and poor central (reading) vision.”

At UK Advanced Eye Care, patients can see multiple subspecialists in one location, and allow their complex eye care to be provided by an integrated team. Stevens says that in Alexis’ care, for example, she had testing through the retinal service, care for her achromatopsia with appropriate eye glass prescriptions, and diagnostic tests by Stevens, a pediatric ophthalmologist, and special tinted contact lenses with the assistance of the optometry service and optical shop.

As an infant, Alexis was fitted with red tinted glasses. The red tint is protective of the eyes and filters out light rays making it easier for her to recognize outlines and objects. After Alexis experienced some bullying in elementary school because of her bulky red glasses, Lynn had Alexis fitted for red contacts which she said made a huge difference. Red tinted contacts completely seal the eyes so light cannot enter. Alexis says the red contacts made her ‘feel normal’ for the first time.

Alexis Johnson has 20/200 vision and is legally blind. She only sees in shades of gray with limited color perception and no fine vision. Even so, she displays a vast amount of self-assurance and confidence that nothing in life is beyond her reach because of achromatopsia. She completed high school and attended Bluegrass Community and Technical College. Her pursuit of adventure has known no bounds.

At age four, Alexis learned to play soccer by the sound of the footsteps around her. In pre-school, she zip-lined across an open field. She danced her way from first grade through early high school as she learned ballet, tap, jazz and hula. She played the flute in her high school marching band, attributing dance lessons with helping her get into formation relative to other people.

Her love of horses, however, began even earlier when at two or three years of age, Alexis picked out a large black stuffed horse in a toy store that she named Ebony. Lynn says Alexis was 4 or 5-years-old when she got her first real pony named “Copper,” whom she still has today.

“Copper took such good care of her as she learned to ride on trail rides,” Lynn Johnson said. “He would swim with her in a creek while on a lead rope. If Alex should begin to slide off his back as they were walking, Copper would come to a complete stop.”

“He brought her joy and helped her cope with the disability much like hippo therapy only with a horse. Riding Copper was self-calming. If Alex had a bad day, she would talk to him.”

Jumping fences in competition is no easy feat for a person with good vision, much less a legally blind one. Alexis gives credit for her ability to compete to her horse trainer, David Warner of Midway, Ky., who had to adapt his teaching style to accommodate her inability to identify certain features in the ring.

“Sometimes he would talk me through a course as I watch someone else do the same course, not taking my eyes off the person doing the course,” she said. “He  has been wonderful in finding ways to adapt his teaching style to help me learn and succeed, and I would not be able to do what I do with my horse without that.”

Four horses and nearly 20 later, Alexis’ enthusiasm for horses and competing has not waned. Recently, Alexis participated in the American Quarter Horse Congress which she refers to as the “super bowl of quarter horse shows” because of its enormity and level of professionalism. She says the crowds and the trials don’t make her anxious or nervous.

“I don’t care about all the people watching me, I can’t see them anyway,” she said. “It’s just me and the horse in the ring. I go in wanting to do my best with my horse as a partnership. It’s not about the ribbons; it’s about having fun and doing the best I can.”

“If there is something I want to do, even if it’s hard, I will find a way because it’s always worth it.”

UK is the University for Kentucky. At UK, we are educating more students, treating more patients with complex illnesses and conducting more research and service than at any time in our 150-year history. To read more about the UK story and how you can support continued investment in your university and the Commonwealth, go to: #uk4ky #seeblue

Do you know a Champion of Change in your community? Send Dia Davidson an email.