The toddler's eyes were frozen in an uncontrollable stare at the floor and his eyelids drooped over the whites of his eyes. To look up at neurology resident Elizabeth Engle, he had to tilt his head way back. A conversation with the boy's mother revealed that this defect ran in the family, but they knew nothing about what caused it—or even if it had a name.

Engle didn't know either, so she referred the boy for a battery of neurology and ophthalmology tests. A short note back from the consulting ophthalmologist stung: "Why are you putting the child through all these tests? He has a well-described syndrome that's been in the ophthalmological literature since the 1800s. Congenital fibrosis syndrome."

Embarrassed that she hadn't recognized the syndrome, Engle—now an HHMI patient-oriented researcher—went straight to the literature. True, the disease was well described, but it wasn't well understood. She was determined to look at it with fresh eyes.

Photo: Jeff Barnett-Winsby