Imagine living with a constant gritty sensation in your eyes, coupled with blinding light sensitivity and sudden, searing pain. This was Lisa Carnevale's reality for years, a relentless struggle that left her feeling unheard and adrift in her quest for answers.
Lisa's vision troubles began subtly in 2004 with intense dryness, blurred sight, and an extreme sensitivity to light. Over time, these symptoms escalated into agonizing, unpredictable spikes of pain, a sensation she vividly described as "like I was living with sand in my eyes." This persistent discomfort finally led to a diagnosis in 2009: a specific form of secondary angle closure glaucoma. Glaucoma, a progressive condition, can silently damage the optic nerve as eye pressure fluctuates, potentially leading to irreversible vision loss and even blindness. At the time, Lisa underwent laser iridotomy, a procedure designed to improve fluid drainage in her eyes. However, despite this intervention and her determined efforts to seek further help, she continued to be bounced between physicians, her condition remaining a mystery.
But here's where it gets truly complex and often overlooked...
It wasn't until 2017 that a crucial piece of the puzzle finally emerged. Lisa was diagnosed with hypermobile Ehlers-Danlos syndrome (EDS), the most prevalent type of EDS. This group of inherited disorders affects collagen, a vital protein that provides structure and elasticity to our tissues. Consequently, EDS can impact everything from ligaments, tendons, and joints to the spine, organs, and blood vessels. Lisa shared, "Growing up, people always said I was clumsy, but it was the condition." She explained how EDS affects proprioception, our innate sense of our body's position in space. This explained her frequent mishaps, like walking into doorways or misjudging distances, even simple actions like taking off a shirt could lead to accidental bumps because her brain struggled to accurately map her surroundings. Individuals with EDS often exhibit hypermobile joints, skin that is both stretchy and fragile, and general tissue weakness. They are also more prone to co-occurring conditions such as mast cell activation syndrome (MCAS) and postural orthostatic tachycardia syndrome (POTS). For many, vision complications can also develop over time.
And this is the part most people miss: the intricate link between connective tissue disorders and eye health.
In 2023, after extensive research into EDS and consulting with ophthalmologists in Toronto who specialized in treating glaucoma patients with EDS, Lisa found her way to Dr. Irfan Kherani's clinic at UHN's Toronto Western Hospital. "I’d seen 15 other ophthalmologists between 2004 and 2023, most of whom reassured me that nothing seemed wrong with my eyes and suggested it might just be migraines," Lisa recounted. Her experience with Dr. Kherani was a stark contrast: "With Dr. Kherani, I felt supported from the very first appointment. He was so pleasant with every single patient that I honestly couldn’t wait to meet him."
Vision conditions stemming from EDS present unique challenges. The ligaments supporting the eye's lens can be weakened, leading to a variety of symptoms, including significant, intermittent pain that makes diagnosis and management particularly difficult. While not everyone with EDS will develop an eye disorder, common issues like severe dry eyes, glaucoma, cataracts, and retinal diseases are frequently observed. In Lisa's specific case, she developed a complex combination of cataracts and glaucoma.
Dr. Kherani, a glaucoma and cataract surgeon at UHN’s Donald K. Johnson Eye Institute, emphasized his patient-centered approach: "The most important thing that I always let my patients know is that we are going to try our best to do what’s in their very best interest." He further highlighted the heightened importance of meticulous care for patients like Lisa: "Especially with cases like Lisa’s, it’s crucial that we are recognizing that she’s at higher risk for complications with surgery. We’ll find out about everything that we need to know in advance to help make sure it goes smoothly."
In 2024, Lisa underwent two pivotal surgeries. In April, she had a combined cataract and glaucoma surgery, followed by another cataract surgery in September. For her glaucoma treatment, Dr. Kherani employed a minimally invasive glaucoma surgery technique. This approach is particularly beneficial for patients with EDS, as it offers effective pressure control with minimal trauma by optimizing the eye's natural drainage system, rather than creating a new one, as is done in traditional surgeries. "We are really lucky at Toronto Western Hospital, where we’ve been doing minimally invasive glaucoma surgery for almost a decade," Dr. Kherani noted. "Because of that, we’re able to treat glaucoma earlier and more safely."
Today, Lisa's vision is significantly improved. Her cataracts have been fully resolved, her glaucoma is stable, and she is no longer at high risk for these secondary complications associated with EDS. With her vision restored, Lisa is joyfully rediscovering her passions. "I love riding my recumbent trike, usually 40 to 50 kilometres, five to seven times a week in good weather. I’m also exploring flower pressing again and other hobbies, which I couldn’t do for years," she shared. "Life still has challenges, but these surgeries gave me hope."
Did you know that January is Glaucoma Awareness Month? Nearly 800,000 Canadians live with glaucoma, and it stands as the second leading cause of blindness globally. While vision diseases like glaucoma cause irreversible damage and currently have no cure, early prevention and diagnosis are key to slowing or preventing vision loss. A remarkable over 75 percent of vision loss is preventable or treatable with early intervention through regular eye examinations.
What are your thoughts on the challenges of diagnosing rare or complex conditions like EDS? Do you believe more awareness and specialized training are needed for healthcare professionals? Share your opinions below!
