Genetic Insights into Coats Disease, With David H. Abramson, MD

At the 2025 New York State Ophthalmological Society (NYSOS) Annual Meeting, David H. Abramson, MD, an ophthalmologist at Memorial Sloan Kettering Cancer Center, presented the results of, and his findings from, a pediatric surgery on a patient with Coats' disease.

The featured case study involved a child initially suspected of having retinoblastoma, who was ultimately diagnosed with Coats’ disease after detailed imaging. Notably, fluorescein angiography revealed bilateral retinal vascular changes, which contradicts the generally accepted belief that Coats' disease only appears unilaterally.

"A few years ago, we began doing fluorescein angiograms of the peripheral retina, something we really hadn't done in ophthalmology until relatively recently, and in many, maybe even all of our Coats' patients, we were seeing subtle abnormalities in the fellow eye," Abramson told HCPLive. "Now, as we've taught for years, Coats' disease is unilateral, and clinically it is. And yet, with fluorescein angiogram, the disease appears to be bilateral."

Abramson and colleagues then conducted genetic testing, measuring the length of the patient's telomeres. Prior studies have indicated that, of the genes known to influence telomere length, ≥10 are also associated with Coats' disease. Given this, the team investigated these genes to identify a potential cause of bilateral Coats' disease.

Ultimately, these tests identified a variation in the LTBP2 gene, which has previously been associated with pseudo-exfoliation, open-angle glaucoma, and Marfan syndrome. Notably, it has not thus far been associated with Coats' disease.

Abramson notes two key takeaways from this operation. First, despite the wealth of literature indicating that Coats' disease is unilateral, evidence now indicates that symptoms can manifest bilaterally. Abramson also suggests that bilateral Coats' disease may appear far more often than previously suspected, given the limited amount of fluorescein imaging conducted until recently.

Second, the general concept that one gene causes one disease is not always true, as more and more genetic tests indicate that individual genes can contribute to a variety of diseases.

"The concept that one gene can cause many diseases is something we are more and more finding is true in ophthalmology," said Abramson. "So our concept that we all had in the past, that one gene causes one disease, is true, but not nearly as often as we think."

References

1. Abramson, DH. Coats' Disease: A New Gene and a New Finding. Presented at the 2025 New York State Ophthalmological Society Annual Meeting. May 16, 2025. New York, NY.