Hopping into the driver鈥檚 seat of her off-highway vehicle (OHV), 74-year-old Jeanine Waldron Carter fires up the ignition and floors the gas鈥攂ut it doesn鈥檛 move. To the question, 鈥淎re you sure you know how to drive this thing?鈥 she flashes a mischievous sideways smile, pops the emergency brake, and laughs big as the OHV lunges for the dirt road ahead.
Despite having an aggressive form of glaucoma, Jeanine expertly navigates a sharp curve and heads up a steep, windy hill into the foothills of Richville, Utah. Below, a mosaic of farms dots the narrow valley. Jeanine squints, blinks, and dabs at her watery eyes as she points out the farm she grew up on.
鈥淭his is the land my great-grandparents settled,鈥 she said.
With 12 人妻中出视频ren and hard work, Gillispie Waldron and his wife, Ann, built a dairy farm and a lasting legacy鈥擩eanine鈥檚 brother Dee and his wife, Sherry, still own and operate the farm today. But, it wasn鈥檛 until Jeanine participated in a study with Moran Eye Center glaucoma specialist Barbara Wirostko, MD, that she learned she and her four siblings all share another, more challenging inheritance: exfoliation syndrome (XFS).
The Eye Tells All
A systemic disorder appearing later in life, XFS is caused by a dysfunction in the gene responsible for repairing the body鈥檚 elastin tissue. As a result, a protein material resembling whitish specks collects in the eyes, skin, and other organs including the heart, blood vessels, lungs, gallbladder, and uterus.
People with XFS are predisposed to cardiovascular disorders, irregular heart rhythms, hernia, lung disorders, and pelvic prolapse. Yet, while the gene can be discovered through a blood test, it鈥檚 not usually identified until an ophthalmologist spots the protein-like material in the eye.
There, the material can make cataracts progress more rapidly and clog the eye鈥檚 drainage system, causing glaucoma鈥攁n increase in intraocular pressure that kills retinal cells and can lead to vision loss.
鈥淲hat we have found is that if you can see this material in the eye, you know your patient has the gene,鈥 explained Wirostko. 鈥淏ut we don鈥檛 know why the material shows up in some family members and not others, or why one eye could have a lot of material and horrible glaucoma, and the other eye could have only a little bit of material and no glaucoma.鈥
My advice for my kids is that as they get older, they need to be more diligent about getting checked out because XFS is an age-related disease.
A Common Thread
Jeanine and her two sisters, Elaine and Christine, all have glaucoma. But Jeanine鈥檚 is the most advanced. Under the care of Moran physicians, she鈥檚 had surgery in both of her eyes to drain fluid and has undergone cataract surgery. Despite adhering to a strict regime of three different eye drops, three times a day, she recently needed another procedure to lower increasing pressure, performed by Moran glaucoma specialist, Craig Chaya, MD.
Joining the XFS study at the suggestion of Moran glaucoma specialist Alan S. Crandall, MD, Jeanine learned that while her two brothers Dee and Leon aren鈥檛 affected by glaucoma, all five siblings have XFS. The revelation allowed family members to quickly recognize the disorder as a common thread in a long history of ailments.
Jeanine was diagnosed with an esophageal hernia 25 years ago, had double bypass surgery 17 years ago, and was diagnosed with glaucoma 10 years ago. She continues to be monitored for heart arrhythmia and takes blood pressure medication.
鈥淏efore the study, I had no idea that my eyes and all these other diseases could be related,鈥 said Jeanine. 鈥淵ou don鈥檛 know what you don鈥檛 know.鈥
Now, many of the family鈥檚 younger generations are participating in the study and aware of their increased risk for XFS-related diseases. But, even those patients who aren鈥檛 participating in the study can benefit from better preventative care鈥攊f they and their doctors know what to look for.
鈥淚f patients have elastin-tissue related conditions, like a hernia or pelvic organ prolapse (POP), they should also be getting their eyes checked,鈥 said Wirostko. 鈥淲e also need to increase awareness for better testing among physicians. If you don鈥檛 dilate the pupil, or if you don鈥檛 do a close slit-lamp exam, you may miss some of these XFS patients.鈥
The Goal: Personalized Therapies
In addition to genetics, Wirostko and her collaborators are also examining age, ultraviolet exposure, and higher altitudes as risk factors for XFS. Their efforts have already produced significant new knowledge that could help XFS patients.
Wirostko, in collaboration with the 人妻中出视频 of , determined in 2016 that women with POP had a 50 percent increased risk of having XFS. Women between 30 and 65 years of age who had a POP diagnosis, when followed for 20 years, had a 48 percent increased risk of developing XFS during that time.
In another study, in JAMA Ophthalmology, Wirostko and her fellow researchers found a 2.3-fold increased risk of an XFS diagnosis among patients with inguinal hernia (IH), a type of groin hernia more common in men.
Wirostko believes cross-disciplinary research will not only shed light on the genetics and related disorders of XFS in future studies, but transform patient care. 鈥淲e need to shift our focus from just lowering eye pressures,鈥 she said. 鈥淚f we can look at the underlying genetic causes and delve into the whole patient鈥攖heir personal histories and habits鈥攑erhaps we can actually find new personalized therapies to cure XFS glaucoma and other related disorders.鈥
We need to increase awareness for better testing among physicians. If you don鈥檛 dilate the pupil, or if you don鈥檛 do a close slit-lamp exam, you may miss some of these XFS patients.
Utah鈥擜n XFS 鈥楬ot Spot鈥
Utah might be the perfect place to study XFS.
The disorder is often seen in people of northern European ancestry like the Waldrons, and Utah has a predominant population of large families with a similar heritage. It also has a unique resource in the (UPDB), which has made it possible for researchers to study genetics, epidemiology, demography, and public health for nearly 40 years. The database holds more than 25 million individual pieces of medical information for over 8 million people and genealogical records from the Utah Family History Library.
For the study involving the Waldrons, Wirostko is interviewing patients and relatives to learn about their family and medical histories, conducting standard eye exams, and taking blood samples.
鈥淚t is a huge benefit having almost the entire Waldron family participating in this study,鈥 said Wirostko, calling it almost 鈥渦nheard of鈥 to have all five siblings with XFS.
Jeanine is thankful physician-scientists like Wirostko are working to solve XFS. Having received a teacher-of-the-year award, the consummate instructor believes, 鈥淚f the study helps educate others, then, that鈥檚 a good thing.鈥