Exfoliation syndrome is a common condition in which a flaky white material is deposited in many tissues of the eye (the lens, the cornea, and the drainage structures) and throughout the body. Exfoliation syndrome is an important cause of glaucoma as up to half of those with exfoliation syndrome eventually develop a secondary glaucoma (exfoliation glaucoma).

A congenital optic nerve disease that resembles normal tension glaucoma (NTG)

Cavitary optic disc anomaly (CODA) is a congenital disease in which the optic nerve is deeply excavated at birth much like cupping that occurs in severe cases of glaucoma.

A Family-based Approach to Find Normal Tension Glaucoma Genes

Project Summary. Glaucoma often runs in families. In rare cases, a large number of family members have normal tension glaucoma that is passed down from generation to generation in an obvious pattern. We have enrolled several such families with normal tension glaucoma into our research program.

Genetic Studies of Pigment Dispersion Syndrome

Project Summary. Eye doctors diagnose patients with glaucoma by taking measurements of key features of the eye that are quantitative or numerical. Some of these quantitative features of glaucoma are eye pressure (measured in mm Hg), thickness of the cornea (measured in microns), the shape of the optic nerve (measured as the cup-to-disc ratio); and the extent of vision loss. The genes that control the magnitude of quantitative features of glaucoma likely contribute risk for developing disease.

The Glaucoma Genetics Lab is working with the Tucker Stem Cell Lab to study glaucoma. Together we have developed a research program to study our glaucoma patients’ eye disease using cells cultured from their skin.

We have obtained small skin biopsies from our patients that have glaucoma due to a TBK1 gene mutation and we are growing skin cells (fibroblasts or keratinocyte progenitor skin cells) from these biopsies.