A Mother’s Vigilance: A Family's Journey Battling Inherited Retinal Disease
We have patients come from across Texas and beyond to be treated by our board-certified retinal specialists and ophthalmology experts at Austin Retina Associates.
Lauren and Don Bruss live in New Mexico with their two young children under the care and treatment of C. Armitage Harper III, MD for an inherited retinal disease known as FEVR.
Lauren herself grew up with vision impairment that caused minimal vision in her right eye and loss of stereo depth perception. Lauren and Don suspected that their own children could have ophthalmology needs someday.
The Bruss Family Journey with Inherited Retinal Disease
Fast forward to when Lauren's daughter Eloise, now four years old, was around six months old, Lauren noticed signs of her lazy right eye and saw a local ophthalmologist in New Mexico who diagnosed Eloise with Morning Glory Syndrome, or a defect in the optic nerve. She was then referred to a retina specialist in nearby Santa Fe. That doctor later identified Eloise’s condition as FEVR, an inherited retinal disease, and promptly advised them to find a pediatric retinal specialist elsewhere as their practice was not equipped to treat children.
Following extensive research for a pediatric retina expert and excellent patient service, Lauren found Austin Retina Associates in her home state of Texas, far away from home given the low number of pediatric retina specialists available. Eloise has had multiple laser surgeries to prevent her vision from worsening. Since her diagnosis was discovered several months after she was born, she will always have limited vision in her right eye.
Of her long term prognosis, Dr. Harper says, “she will need monitoring every few months, and will likely need laser surgery again at some point in the future if she worsens, but for right now she is stable and doing well.”
At the recommendation of Dr. Harper, Lauren took a genetic test after Eloise’s diagnosis to discover that she is a genetic carrier of the autosomal dominant disorder, and therefore all her children would be at risk of an inherited retinal disease. After receiving her test results, an eye exam revealed that Lauren had lattice degeneration and she too underwent laser surgery with Dr. Harper to prevent the risk of a retinal tear or detachment.
When Lauren gave birth to her second child, Ernest, she quickly scheduled him for an eye exam with a pediatric ophthalmologist who confirmed Ernest’s retinas had developed abnormally and he needed surgery to prevent retinal detachments. At just six days old, Lauren and Ernest flew to Austin to have laser surgery to stop the retinal drag associated with FEVR that can impact vision and took a genetic test to confirm the FEVR diagnosis.
Because Ernest was identified immediately with FEVR and early intervention was possible, Dr. Harper says he has “good visual potential with expected limited peripheral vision in both eyes, but also good maintained central vision.”
What is FEVR and inherited retinal disease?
FEVR stands for Familial Exudative Vitreoretinopathy. It is a condition caused by poorly developed blood vessels in the retina that can turn into scar tissue leading the retina to contract (or drag) and potentially detach, and therefore resulting in irreversible vision loss and impairment.
It is categorized as an inherited retinal disease meaning that a gene, or group of genes, are passed down through families that contribute to this condition, such as others like achromatopsia (color blindness) or Stargardt Disease (impaired straight-on vision).
Treatment for FEVR involves regular monitoring of the retina’s position and typically an ongoing series of laser surgeries to repair the damaged retinal blood vessels and tissue to keep it from dragging or moving out of place.
When should children see a retina specialist?
If you have a known family history of inherited retinal disease, discuss this with your pediatrician prior to birth so that your child can be screened immediately, and early intervention can take place.
Premature babies are regularly screened for retina disorders but both Eloise and Ernest were born full term, so they were not referred to a vision specialist at birth. Dr. Harper shares that “given that dilated eye exams are not a universal requirement at birth, if Lauren did not now know to request this (for Ernest), his condition could have been missed and he could have been blind.”
Early intervention and action are always key to successfully preserving and reversing potential vision loss later.
Austin Retina Associates recommends that all children (and especially infants born prematurely) see a pediatric ophthalmologist at nine months of age, regardless of family history.
“I also like to tell parents that the best things they can do for their child's eyesight include helping them gain weight, getting them outside, limiting screen time, and taking them to the eye doctor regularly,” adds Dr. Harper.
When asked what she would share with other parents about her experiences with both children suffering from an inherited retinal disease, Lauren says it’s important to know your family history and what to watch for. She encourages parents to take their children to a pediatric ophthalmologist early and consult a pediatric retina specialist if needed.
Lauren also says to get their eyes checked regularly when young and be vigilant with recommendations for follow-up exams if needed. “You know your kids have teeth and you go to a dentist, your kids have eyes too, and they need to see an ophthalmologist.”
The Bruss family is extremely grateful for the care they receive at Austin Retina and are especially appreciative of Dr. Harper and his tech, Shannon Scarboro, who plays an essential part in ensuring their appointments run smoothly.
“Shannon is a delightful person the kids enjoy, and she goes the extra mile to make us feel confident and secure every time we plan a trip to Austin,” says Lauren. “She is absolutely the best.”
Consult with a Retina Specialist Today
Austin Retina Associates treats a wide range of retinal conditions. Our experienced team of retina specialists in Austin are dedicated to improving your vision and quality of life.
Contact us at 800-252-8259, or request an appointment online at one of our retina treatment centers located in Austin and throughout Central Texas.
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