Glaucoma Research Review

Glaucoma includes a number of disorders that share a degeneration of the optic nerve. In the absence of treatment, this degeneration results in loss of visual field and, ultimately, irreversible blindness. Over 15 million Americans suffer from glaucoma. It is the third most prevalent cause of blindness among white Americans and affects 2% of adults over the age of 40. The prevalence of glaucoma among black Americans is 4-6 times higher than among white Americans, and is the leading cause of blindness within this population. Primary open angle glaucoma (POAG) is the most common form of the disease and accounts for half of the total cases. POAG usually affects both eyes, and in contrast to other forms of glaucoma, all of the structures of the anterior segment of the eye appear normal upon examination.

The Duke Molecular Physiology Institute (DMPI), formerly the Duke Center for Human Genetics, glaucoma research goals are to identify and fine map candidate POAG susceptibility genes. We also seek to identify genes expressed in the trabecular meshwork that may be responsible for the reduced aqueous outflow in glaucoma patients.

The research team at the DMPI and the Duke University Eye Center performed a two-stage genome scan to identify genomic locations of glaucoma susceptibility genes. The scan was performed using an initial pedigree set of 113 affected sibpairs and a second pedigree set of 69 affected sibpairs. In the combined data analysis, significant results were found on chromosomes 14, 15, and 19. These results are an important step towards the identification of genes responsible for the genetic susceptibility to this blinding condition.

Our Study Team
Finding genes is a tremendous effort that requires the combined efforts of many people. Individuals with glaucoma and their family members are the most important members of this team.

Duke Molecular Physiology Institute 

Michael Hauser, PhD   Investigator
Duke University Eye Center    
R. Rand Allingham   Investigator
Cecilia Santiago-Turla, MD   POAG Clinical Research Coordinator

DMPI Glaucoma Publications

As DMPI researchers continue to define the genetic causes of glaucoma, they publish their findings in leading academic journals and share their knowledge with colleagues at meetings and conferences.

List of Glaucoma Research Publications.

Glaucoma Study Participation

Participating individuals in families affected by glaucoma will be asked to contribute the following forms of information to the study:

  • A detailed family and medical history
  • A brief eye examination with eye photos
  • A blood sample from all participating family members
  • Once blood samples are received in the laboratory, DNA (the genetic material) is removed the white blood cells. The DNA is used to compare the DNA from individuals affected by glaucoma with individuals who are not affected by glaucoma.

All information is confidential and not shared with other family members or personnel outside the Duke glaucoma research group without permission of the participant. No individual or family specific results will be given to study participants. We will share our overall findings with families through periodic newsletters and scientific publications. If a research breakthrough is made or a genetic test becomes available, we will notify participants.

Interested individuals may contact:

Cecilia Santiago-Turla
POAG Clinical Research Coordinator
Phone: (toll free) (800) 422-1575
Phone: (919) 668-0634 or 681-6585
Fax: (919) 684-9801

Two NIH/National Eye Institute grants support this research. Dr. Rand Allingham leads a project to identify the gene responsible for glaucoma linked to chromosome 15q. Dr. Michael Hauser leads the project to characterize gene expression in the trabecular meshwork and retina. These studies are conducted in accordance with Federal guidelines and current US laws.

Additional Glaucoma Information

Support Groups and Information Sources
American Academy of Ophthalmology
PO Box 7424
San Francisco, CA 94109-7424
Phone: (415) 561-8500

American Optometric Association
243 Lindberg Boulevard
St. Louis, MO 63141
Phone: (314) 991-4100

The Glaucoma Foundation
116 John Street, Suite 1605
New York, NY 10038
Phone: (202) 285-0080

Glaucoma Research Foundation
490 Post Street, Suite 1427
San Francisco, CA 94102
Phone: (toll free) (800) 826-6693
Phone: (415) 986-3162

National Eye Institute
2020 Vision Place
Bethesda, MD 20892-3655
Phone: (301) 496-5248