Turner Syndrome Foundation
The Turner Syndrome Foundation’s (TSF) My Story blog series highlights the experiences of individuals, families, and caregivers affected by Turner Syndrome (TS). Their stories have an incredible ability to inspire others and make a positive impact on the TS community. August is Children’s Eye Health and Safety Month, meant to bring attention to the importance of identifying eye health issues early in life. In this My Story feature, Tammy shares how TS has impacted her life, including a recent surgery to address strabismus, an eye condition that affects approximately one-third of those with TS.
Tammy’s Story
Diagnosis
I was diagnosed with TS at 13. During a visit to my pediatrician, she mentioned that I was failing to thrive and recommended some testing. So off to Dartmouth-Hitchcock I went for DNA testing. I was diagnosed with TS and saw a specialist at Children’s Hospital in Boston until I was about 19. Looking back, I clearly had signs of TS–short stature, failure to thrive, webbed neck, arms that curve at the elbows, and trouble with math. I am now nearly 53 years old, and I am fortunate to have only a few medical conditions, like hypothyroidism and hearing loss. Also, I recently had eye surgery soon to correct strabismus.
My biggest obstacle has been in education–math, in particular. While I was obtaining my Associate’s degree at Fisher College, I failed my algebra math requirement. That was very tough, but I got help, retook the class, and brought my grade up two levels to pass the course. Now, my Bachelor’s Degree is near completion, and I am looking at new avenues in my professional life–perhaps health information security or teaching. Whatever the future brings, I am looking forward to it.
Strabismus
I was diagnosed with 6th cranial nerve palsy and strabismus in my left eye in March of 2021. These conditions affected my ability to drive and distorted my vision. I temporarily used a prism attachment on my glasses to correct my vision issues.
My surgeon determined that permanent prism lenses would not correct my eye misalignment, though, and that the extent of my eye muscle deviation was appropriate for surgical intervention. I decided I would have the surgery and got pre-op clearance from my primary care provider and cardiologist.
Surgery
On March 11, 2022, I had strabismus surgery at Tufts Medical Center in Boston, Massachusetts, with Dr. Sylvia Yoo. The procedure consisted of adjusting the eye muscles on both ends of my left eye with dissolvable sutures. Dr. Yoo did an amazing job. I couldn’t get water near my eye for about 48 hours, and it was a two-and-a-half week recovery time. I had a bloodshot eye for nearly two months.
There was a slight complication–suture granulomas (a cluster of immune cells that developed at the site of the sutures). This cleared up after a few extra days of ophthalmic antibiotics.
"I am most proud of the fighting spirit I have to never give up. Sometimes I forget I have TS. It is just part of who I am today and has never stopped me from doing anything I want to do."
A Fighting Spirit
TS has given me a fighting spirit. Growing up, I was always athletic, and I never let TS stop me from my gymnastics lessons, cheerleading practices, or softball drills. Even as I got older, I never let my diagnosis stop me from pursuing my education, buying a house on my own, and fixing my current vision issues. TS has made me a strong and resilient human being.
I am most proud of the fighting spirit I have to never give up. Sometimes I forget I have TS. It is just part of who I am today and has never stopped me from doing anything I want to do.
Eye Conditions Associated with TS
Strabismus
Strabismus is a condition in which a person’s eyes do not work as a team, and they point in different directions. It may be that one eye directs to where the person wishes to focus, while the other eye moves inward, outward, upward, or downward. Or it may be that neither eye is able to move in the direction the person wishes. In normal vision, the brain combines the information from both eyes to form a unified image.
With strabismus, the disparity of the information received from the poorly aligned eyes causes the brain to struggle to create a unified image. The brain may ignore information provided by the misaligned eye, and patients may experience double or blurry vision or a lack depth perception. Strabismus affects approximately four percent of the U.S. population overall, and approximately one-third of those with TS.
There are several treatment options for strabismus, depending on the cause of the condition and the severity of symptoms. Vision correction with eyeglasses or contact lenses may be suggested for patients with refractive errors (when the shape of the eye prevents it from focusing correctly). The shape of the eye determines how the light entering bends, and impacts visual clarity. Prism lenses bend light before it enters the eye, and treat strabismus by not requiring the eye to turn as much to focus where needed. Correction means the affected eye requires less effort to focus, which may keep it in correct alignment.
Medications in the form of eye drops or injections may be used when a muscle in the eye is the cause of misalignment. Surgery may also be an option when the cause is determined to be related to the eye muscles.
Amblyopia
Sometimes called “lazy eye,” amblyopia occurs when one eye does not develop clear vision. As with strabismus, the brain may come to ignore information from the affected eye. Left untreated, the brain favors the stronger eye, leaving the unused eye to become even weaker. Types of amblyopia are defined by their origin. For example, a form called “strabismic amblyopia” develops due to the constant misalignment of one eye. It has been estimated to affect one to five percent of the population.
Treatment may involve strategies that force the brain to use the affected eye, such as placing a patch over the stronger eye or using drops to blur vision in the stronger eye. Sometimes amblyopia results from a refractive error and is corrected with glasses. If the amblyopia is caused by a surgically treatable option, such as cataracts, surgery may be recommended.
Red-Green Color Blindness
This type of color blindness occurs at a similar rate in TS as in the general population, approximately eight percent. Those with red-green color blindness may also have difficulty seeing fine details. A number of videos online showing those with color blindness effectively and immediately treated with specialized glasses may be misleading, as glasses only treat particular types of color blindness.
Specialized glasses may improve vision for some by reducing environmental brightness. Other options include various aids to help people live with color blindness, such as apps that assist in differentiating colors.
Refractive Errors
Hyperopia (farsightedness) and myopia (nearsightedness) are refractive errors (in which the shape of the eye does not bend light correctly) that occur in 40% of those with TS. Eyeglasses, contact lenses, or in some cases, surgery, treat these conditions.
Ptosis
Ptosis is a drooping of the upper or lower eyelid found in 16% of TS patients. How ptosis is treated depends on whether the condition affects a person’s vision and eye health, or if the person is concerned about their appearance. Surgery is the most common treatment.
A quick search of ptosis treatment options online delivers a number of “home remedies,” such as eyelid exercises or strategies to reduce puffiness. However, these may not only leave the ptosis unimproved, but could also cause it to worsen.
What You Can Do To Prevent & Treat Vision Problems
It is recommended that patients with TS receive a comprehensive ophthalmological examination between 12 and 18 months of age, or at the time of diagnosis, with an emphasis on early correction of eye refractive errors. Multiple vision issues are found in about 35% of those with TS. Early detection and correction of refractive errors are vital to prevent vision loss.
Sources
- Children’s Eye Health and Safety Month Resources
- Children’s Eye Health and Safety Month
- August is Children’s Eye Health and Safety Month
- The presence of eye defects in patients with Turner syndrome is irrespective of their karyotype
- Ophthalmic features of Turner’s syndrome
- Strabismus vs Amblyopia: The Difference Between Crossed Eye and Lazy Eye
- Strabismus (Crossed Eyes)
- Amblyopia (Lazy Eye)
- Ptosis (Drooping Eyelid)
- Color Blindness
- How is ptosis treated?
- August is Declared Children’s Eye Health and Safety Month by Prevent Blindness and the National Optometric Association
Written by Tammy and Karen Green, TSF volunteer blog writer. Edited by Susan Herman, TSF Blog Coordinator. Designed by Jasmine Persaud, TSF volunteer blog designer.
© Turner Syndrome Foundation, 2022
I was diagnosed with mosaic turners in 1972. It was a time where there was not much information offered to the patient. I was 12 at the time.