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Ruchira Singh Finds Early Cause of Vision Loss in Batten Disease

Wednesday, August 26, 2026

Researchers have developed a new way to study CLN3-Batten disease, a rare, inherited condition that causes early vision loss in children followed by progressive neurological decline. Their findings offer new insight into how the disease begins and point to a promising path for treatment.

Vision loss is often the first and most life-altering symptom for children with the disease, affecting their ability to read, learn, and navigate the world independently, often years before other neurological symptoms appear.

Studying CLN3-Batten disease has been challenging because the earliest damage occurs deep within the retina, a part of the eye that is difficult for researchers to access. To overcome this, researchers at University of Rochester Medicine have created a 3D human stem cell-derived retina model that closely mimics how key parts of the eye work together, specifically, the interaction between light-sensing photoreceptors and support cells called the retinal pigment epithelium (RPE).

“Although molecular and cellular changes associated with the disease have been shown in other models, this retina model captures the earliest and most consistent pathology seen in patients, including photoreceptor outer segment loss and degeneration,” said Ruchira Singh, PhD, an associate professor in the URochester Medicine Flaum Eye Institute, and lead author of the study, which appears in Science Translational Medicine.

"New NIH-Funded Project Targets Early Drivers of Vision Loss in Macular Degeneration"

Monday, April 27, 2026

Age-related macular degeneration (AMD) is a leading cause of vision loss in older adults, and current treatments do not work well enough for many patients, especially in the earlier stages of the disease. A new National Institutes of Health (NIH) grant will support promising research at University of Rochester Medicine to develop a more precise treatment approach that could help slow or prevent the damage that leads to blindness.

A Disease with Few Good Options

AMD affects the macula, the small but critical part of the retina responsible for sharp central vision used for reading, driving, and recognizing faces. The disease can develop in two major forms: dry AMD, which can lead to geographic atrophy, and wet AMD, which causes abnormal blood vessel growth. Although there are FDA-approved treatments for advanced disease, they have limited benefit, cause side effects, and do not address all stages of AMD.

“There is still a major unmet need for treatments that work earlier in the disease process and do more than simply slow down later damage,” said Ruchira Singh, PhD, with the Flaum Eye Institute and principal investigator of the project.

A New Target for Treatment

Singh’s lab is studying a protein called secretory phospholipase A2 -11A (sPLA2-IIA), which her team identified as a possible driver of AMD and related macular dystrophies. Using patient-derived stem cell models, the researchers found that elevated levels of this protein are linked to the harmful changes seen in the retina, including drusen, the early deposits that are the central hallmark of the disease.

“By studying patient cells, we found a biological signal that appears to be involved in how the disease starts and progresses,” Singh said. “That gives us a much better target for developing a therapy that is based on the disease mechanism itself.”

The team is now developing a new small-molecule therapy that eliminates the disease-related protein. This approach may allow for more precise treatment at lower doses and reduce unwanted side effects.