Archive for ophthalmology
Guided by her own experience, one mom navigates Stickler syndrome with her children
Aimee is more than just Mum to three-year-old Arwen and one-year-old Cedric; she’s their guide to navigating Stickler syndrome, a genetic connective tissue disorder that can cause an underdeveloped jaw and airway obstruction (collectively known as Robin sequence), as well as cleft palate, vision and hearing difficulties, and other findings. As a carrier herself, Aimee ... Read More about Guided by her own experience, one mom navigates Stickler syndrome with her children
Genetic variants are found in two types of strabismus, sparking hope for future treatment
Determining how genetics contribute to common forms of strabismus has been a challenge for researchers. Small discoveries are considered meaningful progress. Boston Children’s researchers believe they’ve helped move the needle. They discovered that two types of strabismus — esotropia and exotropia — may have shared genetic risk factors. Duplications on the second, fourth, and tenth chromosomes that ... Read More about Genetic variants are found in two types of strabismus, sparking hope for future treatment
Treatment for the vision condition achromatopsia helps Aiden embrace the outdoors
A lot of things excite 10-year-old Aiden Flaherty: drums, soccer, skiing, video games. But lately, he’s also found joy in a quieter, less active pursuit: watching leaves move on trees. He loves being outdoors during the daytime and taking in all that nature offers. It’s something he only recently could do after receiving retinal gene ... Read More about Treatment for the vision condition achromatopsia helps Aiden embrace the outdoors
Finding a treatment option for tear duct obstruction that works for children
Congenital tear duct obstruction (a blocked tear duct) is the most common cause of excessive tearing in infants and young children. Fortunately, most children require minimal treatment, but those with persistent symptoms can have a procedure to clear the blockage either in a clinician’s office without anesthesia or in a surgical setting with anesthesia. Few ... Read More about Finding a treatment option for tear duct obstruction that works for children
Chloe navigates Marfan syndrome with a positive attitude — and a responsive care team
Chloe Burian has always defied expectations. Despite surgeries and other treatments for several conditions that stem from the genetic disorder Marfan syndrome, the 12-year-old remains upbeat. “Nothing bothers her,” says Chloe’s mom, Audrey. “She goes through life with a smile.” Still, there were moments of doubt along the way, especially when Audrey and her husband, Rudy, ... Read More about Chloe navigates Marfan syndrome with a positive attitude — and a responsive care team
Here’s how genetic vision testing can help your family
At least 600 of the roughly 20,000 genes in the human body are needed for normal eyesight. Changes in those genes can lead to many eye conditions, including glaucoma, cataracts, and inherited retinal disorders. If your child has an inherited retinal disorder, they might benefit from genetic testing. It can help determine a diagnosis and how their ... Read More about Here’s how genetic vision testing can help your family
Pioneering trial offers hope for late treatment of ‘lazy eye’
In children with amblyopia or “lazy eye,” one eye is weaker than the other for any of a number of reasons. It may not focus as well, it may be misaligned due to strabismus, or its vision may be obstructed by a cataract or a droopy eyelid. As a result, the brain starts to favor ... Read More about Pioneering trial offers hope for late treatment of ‘lazy eye’
Help your child prevent myopia with two simple steps
Myopia — also known as nearsightedness, or the inability to see things far away — is becoming more prevalent in children. Although myopia can be triggered by genetics, it can also develop because of environmental factors such as limited time spent outdoors and increased time indoors doing activities such as activities on electronics. Dr. Kimberley Chan, an optometrist ... Read More about Help your child prevent myopia with two simple steps
Get a jump on potential eye conditions by having your child regularly tested
It can be surprising to learn your child has an eye condition. Children don’t always outwardly show symptoms of nearsightedness, a lazy eye, or another vision problem. That’s because children are adaptive. If one of their eyes doesn’t function well, they learn to adjust with the other one, according to Dr. Ryan Gise, an ophthalmologist in ... Read More about Get a jump on potential eye conditions by having your child regularly tested
Facial weakness: A dark matter detective story
Elizabeth Engle, MD, has devoted her career to finding genetic and developmental causes for disorders of eye, eyelid, and facial movement. From common conditions like strabismus to very rare disorders, these conditions can impact a person’s appearance and impair social communication, making it hard to shift one’s eyes up, down, or sideways or adjust facial expressions. Each ... Read More about Facial weakness: A dark matter detective story