Coats’ Disease: Genetic insights Refine Treatment
New York – July 9, 2024 – The 2025 NYSOS meeting provided new insights into Coats’ disease, a rare disorder affecting the retina. ophthalmologist David H. Abramson, MD, illuminated the latest findings, detailing the genetic underpinnings of the disease, its treatment, and highlighting advances in surgical approaches. Identifying a genetic link is key and could change everything.
Coats’ Disease: Unraveling Genetic Mysteries and Refining Treatment Approaches
New insights into Coats’ disease, a rare disorder affecting retinal blood vessels, were presented at the 2025 New York State Ophthalmological Society (NYSOS) Annual Meeting.David H. abramson, MD, an ophthalmologist at Memorial Sloan Kettering Cancer Center, shared findings from a pediatric surgery and highlighted emerging genetic links that could revolutionize diagnosis and treatment.
The Challenge of Coats’ Disease
Coats’ disease is characterized by abnormal,leaky blood vessels in the retina,leading to fluid buildup and potential vision loss. Historically, the condition is defined by telangiectatic, exudative retinal vessels with peripheral capillary dropout. Advanced stages can result in severe complications.
- Subretinal exudation
- Retinal detachment
- Neovascular glaucoma
- loss of the eye
Early-stage cases,were the disease is localized to about 90 degrees of the retina,often respond well to laser photocoagulation. However, more extensive cases present a notable therapeutic challenge.
Did you know? Coats’ disease is frequently enough unilateral, affecting only one eye. However, advanced imaging techniques reveal that bilateral involvement may be more common than previously thought.
Anti-VEGF and Telomere Biology: A potential Connection
While anti-VEGF (vascular endothelial growth factor) agents have proven successful in treating other retinal conditions, their effectiveness in Coats’ disease has been limited and unpredictable. Dr. Abramson’s case involved a combination therapy of laser and anti-VEGF, resulting in a positive outcome.this success prompted him to explore a possible link between treatment response and underlying telomere biology disorders.
“I’ve had a suspicion – but I don’t really have anything more than a suspicion – that it’s the patients who have the telomere biology disorders causing Coats’ who are the ones that actually do respond to anti-VEGF agents.”
David H. abramson, MD, Memorial Sloan Kettering Cancer Center
Telomeres are protective caps on the ends of chromosomes, and their dysfunction has been linked to various diseases. Further research is needed to confirm this potential connection.
Surgical Management and It’s Limitations
Surgery for total retinal detachment in Coats’ disease is technically straightforward, but its effectiveness is often hampered by the thick, viscous nature of chronic subretinal exudate. Dr. Abramson described the exudate as being like honey
. The high failure rate has led manny experienced pediatric retinal surgeons to favor conservative management in such cases.
Steroid use has shown some promise, but consistent positive outcomes remain elusive. Moreover, existing treatments can lead to scarring that impairs vision.
“Success here is not steadfast as getting good vision. Success is keeping the eye and, of course, identifying what [the disease] is.”
David H. Abramson, MD, Memorial Sloan Kettering Cancer Center
Pro Tip: Early diagnosis and intervention are crucial in managing Coats’ disease. Regular eye exams for children can definitely help detect the condition in its early stages, improving the chances of successful treatment.
Genetic Insights: Beyond a Unilateral Condition
Dr. Abramson’s genetic findings are enriching the understanding of Coats’ disease. while traditionally considered a unilateral condition, widefield fluorescein angiography reveals bilateral involvement in many cases. Genetic studies have identified mutations in genes like LTBP2, even though many cases remain genetically unexplained.
These findings support a broader systemic context, which dr. Abramson categorized as Coats’ plus
. This involves multi-organ involvement, including cardiac, hepatic, pulmonary, dermatologic, neurocognitive, and hematologic systems, with associated risks of malignancy and bone marrow failure.
The Future of Coats’ Disease Management
Currently, no gene-targeted therapies exist for Coats’ disease. However, recognizing the systemic associations allows for earlier multidisciplinary interventions and more complete patient care. Dr. Abramson emphasized the importance of moving beyond outdated clinical paradigms and integrating modern imaging techniques and genetic diagnostics to improve outcomes and guide long-term management strategies.
