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June 2, 1993

Glaucoma Gene Mapped to Chromosome 1

JAMA. 1993;269(21):2715. doi:10.1001/jama.1993.03500210015005

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A YOUNG man with glaucoma came into the clinic 5 years ago with five generations of his family tree sketched out on a yellow legal pad. It was checkered with relatives who also suffered an especially early and severe form of the disease.

That, says Edwin M. Stone, MD, PhD, is what led to discovery of the first marker for a glaucoma gene.

Stone and his colleagues found the marker on chromosome 1 (Nature Genetics. 1993;4:47-50). They analyzed genetic blood tests on 37 members of the young man's family in Illinois and Iowa, 22 of them affected with a severe form of open-angle glaucoma that does not respond to drops, pills, or laser treatment.

"This family can now with 99% accuracy tell whether somebody got the disease-causing gene, and in this family if you get the gene, you have a 99% chance of developing severe glaucoma by the time you're