Story, Patient, Research and Innovation

Saving Eve’s Eyesight

May 5, 2023

Eve was diagnosed with a condition in which the nerves that provide the face and eyes with sensation for touch and pain do not function properly.

A girl receives eye care from her doctor

When Eve was 3 months old, her mom noticed her eyes were cloudier than usual. Since Eve had already been diagnosed as profoundly deaf, her parents were concerned that her vision – the primary way their daughter connected with her environment – could be lost as well.

After ruling out glaucoma and other conditions, Eve was diagnosed with trigeminal and corneal anesthesia – a condition in which the nerves that provide the face and eyes with sensation for touch and pain do not function properly. Without nerves to stimulate tears or blink in response to irritation, the cornea struggles to repair itself from dryness or injury. If not managed carefully, the condition can cause corneal ulcers, scarring and blindness.

A genetic eye condition diagnosis

Eve also struggled to eat and was delayed in her overall growth and development. Eventually Eve’s parents discovered that their little girl has an extremely rare genetic condition called pontine tegmental cap dysplasia (PTCD), which often results in hearing loss, vision problems, cognitive issues, feeding disorders, poor muscle control and slowed language development. Experts have reported only 40 cases of PTCD in the world.

A sight-saving surgery for PTCD

“I couldn’t accept my baby going blind,” said Athena, Eve’s mom. “Because she is profoundly deaf, her eyes are how she experiences the world.”

Eve’s parents began managing her condition by giving her eye drops regularly. She also had multiple surgeries to partially fuse her eyelids together at the edges in order to help keep her eyes moist. Eve also wore protective glasses and, while she was a baby, splints on her arms to prevent her from injuring her eyes by poking them accidentally. She also received treatments on multiple occasions to help her eyes heal from multiple corneal ulcers.

When Eve was 4 years old, her ophthalmologist in California sent her parents an article that described a surgery called corneal neurotization. It would take a nerve out of her leg and tunnel it between her cornea and a nearby sensory nerve in order to create feeling and sustain Eve’s vision. That same year, the family moved to Denver to receive expert care from Emily McCourt, MD, Chief of Pediatric Ophthalmology, and The Ponzio Family Chair for Pediatric Ophthalmology, at Children’s Hospital Colorado, an expert in treating Eve’s condition with knowledge of this procedure.

Determined to prevent blindness

Over the next several years, Dr. McCourt was determined to save Eve’s vision. The experts on Children’s Colorado’s optometry team first fitted Eve with soft contact lenses that made an immediate difference in protecting her eyes and keeping them moist. Later, one of Dr. McCourt’s colleagues, Melissa Engle, OD, pediatric optometrist, gave Eve larger, hard lenses that made her condition much easier to manage.

In 2020, when Eve was seven, Dr. McCourt trained with the doctor who created the surgery Athena had read about. Although only a handful of people in the country perform this surgery, Dr. McCourt assured Eve and Athena that this would be the best option for managing Eve’s eye condition.

The following April, Eve had the surgery on her right eye. Although it was hard for an active ten-year-old to sit still and recover for six weeks, testing of the nerve’s sensation in November 2021 confirmed that the surgery was a success. Eve doesn’t have full feeling in her right eye, but there is enough to protect the eye against injuries and prevent the persistent ulcers that could have caused Eve to go blind.

Beating the odds

In September 2022, Dr. McCourt’s team performed the surgery on Eve’s left eye. She continues to wear glasses and hard contact lenses to protect her eyes, and her reading vision is nearly normal. Eve attends the Rocky Mountain Deaf School where she has access to teachers and peers who are fluent in her native language, American Sign Language. While her parents can’t believe she’s already a middle schooler, Eve is excelling and loves to learn. In fact, Eve recently received an award for her school’s highest honor roll. Her resilience and determination are an inspiration to everyone who knows her.

Against long odds, Eve has retained her vision thanks to Dr. McCourt’s specialized expertise in her rare disease. She is now a curious, playful and energetic 12-year-old who can clearly see the world she’s exploring.

Since her family moved here in 2015, Eve’s multi-disciplinary care at Children’s Colorado has included, among many other things, whole genome sequencing (WGS). WGS is now available at the Precision Medicine Institute, which works with physicians like Dr. McCourt within our Center for Children’s Surgery to provide the right care at the right time. Both of these teams rely on the generous support of donors to make this testing widely available and provide affordable treatment options for patients and families.