4 minute read
Emberleigh’s Eyes
Five-year-old Emberleigh Taggart first visited U-M and Kellogg as an infant. Born with a congenital skull malformation called occipital encephalocele (OE), she requires specialized care to monitor ongoing risks to her vision and has worn glasses since age one.
Emberleigh lives with her guardian, Jenny Allard, in Wells Township, a tiny community near the town of Escanaba in Michigan’s remote upper peninsula. Like most rural areas, there is no local pediatric ophthalmologist. So for her entire young life, family members have been making the 400+ mile trek with Emberleigh to Ann Arbor to meet with the pediatric specialists at Kellogg.
In the summer of 2023, Emberleigh’s exam revealed a worrisome development: her vision had declined to the point of profound nearsightedness.
“Glaucoma was the first thing we considered,” explains pediatric glaucoma specialist Adam Jacobson, M.D. “Elevated pressures in developing eyes can cause them to enlarge, resulting in severe nearsightedness.” But a thorough exam performed under general anesthesia ruled out glaucoma. Rather, the problem seemed to originate in her retina.
Dr. Jacobson collaborated with pediatric retina specialist Emily Eton, M.D. "We could see evidence of a rare form of nearsightedness caused by a hereditary vitreoretinopathy,” she explains. “It is characterized by a stretching or thinning of the retina, as well as a change in the consistency of the vitreous, causing it to stick to the edge of the retina.”
At first, these signs pointed to an inherited condition called Stickler syndrome. “But we also observed atrophy or thinning in her macula, which is not a feature of the syndrome,” Dr. Eton recalls. “We needed genetic testing to solve the mystery.”
The next steps were closely coordinated with Kellogg’s Multidisciplinary Ocular Genetics Clinic (MOGC), led by Lev Prasov, M.D., Ph.D., and Amanda Pritchard, M.D. Genetic testing was expedited, and the findings were discussed with Jenny Allard before the two headed home.
“Both Emberleigh’s ocular and systemic findings provided clues as to which genes might be involved,” explains Dr. Prasov. “In particular, her history of OE, combined with vitreous and macular abnormalities
“Everyone at Kellogg has been terrific,” says Jenny Allard. “They take wonderful care of Emberleigh, and they’ve been tremendously patient with me, explaining her diagnosis and every step in her treatment and answering all of my questions.”
“Knobloch Syndrome is caused by a mutation in a gene that regulates collagen production,” notes Dr. Prasov. “Disrupted collagen causes the textural changes in her retina, vitreous and macula. It also places her at an increased risk of retinal detachment.”
“That’s why the genetic diagnosis was so helpful in planning Emberleigh’s treatment,” continues Dr. Eton. “We commonly manage that risk with a prophylactic laser procedure—a treatment we wouldn’t automatically recommend for other young children with nearsightedness. With a clearer picture of her long term risk, we were more confident discussing this option with Jenny.”
“That’s why the genetic diagnosis was so helpful in planning Emberleigh’s treatment,” continues Dr. Eton. “We commonly manage that risk with a prophylactic laser procedure—a treatment we wouldn’t automatically recommend for other young children with nearsightedness. With a clearer picture of her long term risk, we were more confident discussing this option with Jenny.”
In a subsequent visit, Dr. Eton performed the procedure, called photocoagulation, in both eyes, shoring up the periphery of the retinas to lower the risk of tearing.
While Knobloch Syndrome means Emberleigh’s eye health will always need monitoring, the diagnosis comes with some good news, too. “Compared with other children with OE, children with Knobloch Syndrome have a much better prognosis for overall development,” notes Dr. Prasov.
“Emberleigh is thriving,” Jenny reports. “We wondered whether her vision might cause her problems in school, but she started kindergarten and she’s doing just fine.” Jenny also works with Emberleigh at home and makes sure she sees the school district’s vision specialist regularly. As Emberleigh grows, Jenny will continue to make the seven-hour trip to Kellogg as needed, so that she can be monitored for retinal detachments, glaucoma, macular atrophy and central vision changes, and to keep her eyeglass prescription current.
Soon, this process will become easier for children and families living with rare inherited eye disorders. Their care will be coordinated through the new Wadhams Family Center for Children’s Vision. Housed in the Kellogg Pediatric Ophthalmology Clinic, the Center will bring together pediatric specialists in genetics, retina, cornea, glaucoma, oculoplastics, neuro ophthalmology, uveitis, and low vision optometry, and provide access to clinical trials. (see page 38)
“Our goal is to streamline the multidisciplinary diagnosis and treatment of pediatric eye disorders,” says Dr. Prasov, who will direct the Center. “Consolidating and coordinating specialists, testing and support in a ‘one-stop’ destination will be enormously helpful for families, especially those like Emberleigh’s who travel such a great distance.”
