Wills Glaucoma Service Foundation Lighthouse

Glaucoma Genetics Scorecard – 2003

Wallace L.M. Alward, M.D.

University of Iowa College of Medicine

Updated December 10, 2003

Chromosomal locations are typically discovered by linkage analysis within a large family or a group of families. A linkage localizes a disease-causing gene to a chromosomal region that may contain thousands of genes. The strength of a linkage is determined by the logarithm of the odds (lod score). A lod score over 3 is considered significant for linkage. Some of the reported linkages (such as GLC1A) have been confirmed by many laboratories and have very high lod scores. Some other linkages have barely significant lod scores and have never been confirmed. Some may ultimately prove to be false.

When there is a gene listed it means that a mutation in this gene has been reported in a patient with the particular glaucoma. It may be a strong association or it may be that a large series of patients with a variety of glaucomas was screened and a single patient was found to have a mutation. For example, a large number of patients with a variety of open-angle glaucomas was screened for myocilin mutations. Of 60 patients with exfoliative glaucoma, 1 (1.7%) had a myocilin mutation. ¹ Myocilin mutations can be found in patients with exfoliation syndrome but it is not a major cause of this disease.

I have attempted to make this as accurate and current as possible. I apologize for any errors or omissions.