Connective Issues Spring/Summer 2025

HOW A VISIT TO THE EYE DOCTOR CAN LEAD TO A DIAGNOSIS

Once suspicion of Marfan syndrome or a related condition is raised, ophthalmologists collaborate closely with specialists, often referring patients to dedicated genetic aortic and vascular/connective tissue clinics. “We work closely with geneticists and cardiologists, assessing family histories to confirm dominant genetic inheritance patterns,” Dr. Doyle said. When it comes to treating dislocated lenses, many ophthalmologists approach management conservatively. Dr. Doyle, who performs lens removal surgeries (lensectomies), prefers to avoid surgical interventions unless absolutely necessary. “We initially aim for careful management using glasses or contact lenses,” he said. Surgery becomes a consideration primarily when severe vision impairment risks complications like amblyopia (lazy eye) in one or both eyes or affects a child’s quality of life and safety. “My decision-making focuses on functional needs rather than rigid numerical criteria, like can the child see adequately for school or safely navigate their environment?” Lens surgery, when required, utilizes minimally invasive techniques. “In younger children, lens removal involves two tiny, one-millimeter incisions. Procedures for each eye are performed separately, four to six weeks apart, with recovery facilitated by medicated eye drops,” said Dr. Doyle. “Older teenagers and adults typically receive artificial lenses through similarly small, self-sealing incisions, following a similar recovery timeline.” Looking to the future, ophthalmology research seeks to enhance diagnostic precision and patient outcomes. Dr. Doyle spearheads ongoing studies funded by the Marfan Foundation, investigating pathological eye growth in mouse models. “Our research explores why the eye grows excessively in Marfan syndrome and how we might prevent this,” Doyle says. “We are enthusiastic about potential new therapies stemming from these investigations.” “The eyes provide important clues about overall health. Recognizing these early indicators—like lens dislocation or severe nearsightedness—can facilitate early diagnosis of Marfan or Stickler syndrome, significantly improving patient outcomes.” ~ Dr. Doyle Linzy’s Story

A routine eye exam typically focuses primarily on vision, but it can also be the first step in diagnosing an underlying genetic condition like Marfan, Loeys-Dietz, or Stickler syndromes. Eye abnormalities, particularly severe near sightedness (high myopia) and lens dislocation (ectopia lentis) are common initial indicators that further testing is needed. “Severe near-sightedness in any child always raises my suspicion for Marfan or Stickler syndrome, with the presence of a dislocated lens making the former more likely,” said Jefferson Doyle, MD, PhD, MHS, who specializes in pediatric ophthalmology and genetic eye diseases at the Wilmer Eye Institute, Johns Hopkins. He is co-founder of Wilmer’s Genetic Eye Disease Center, where he sees more than 200 patients with Marfan and Stickler syndromes each year. “Often, parents notice their child isn’t seeing as clearly as expected or tends to hold things unusually close to their face,” said Dr. Doyle. “Severe near-sightedness and/ or lens dislocation, even in preverbal children, can alert us to an underlying condition. We try to correct the child’s vision with glasses or contact lenses as a first step in both conditions. For patients with lens dislocation, we may also consider lens removal if optical correction does not prove to be adequate.” Over her two decades in practice, Rachel Kuchtey, MD, PhD, a professor at Vanderbilt University in ophthalmology & visual sciences and member of the Marfan Foundation’s Professional Advisory Board, has seen a definite shift in diagnosis of these patients. “Before genetic testing became readily available, ophthalmologists provided critical clinical information for diagnosis, although the final diagnosis wasn’t always certain,” she said. “Now, we will typically initiate genetic testing right away. It’s not uncommon that we are the first to diagnose due to lens dislocation.” Much of the initial diagnosis can be made through a clinical exam using a slit lamp and measuring the severity of nearsightedness. According to Dr. Kuchtey, ophthalmologists may also perform a biometric scan, providing valuable data such as corneal thickness and curvature, eye axial length, and anterior chamber depth—parameters that are critical indicators of ocular abnormalities associated with connective tissue conditions.

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