Cleveland Clinic Cole Eye Institute and Foundation Fighting Blindness Donor Program for Inherited Retinal Degenerative Diseases
Cole Eye researchers are focused on understanding the underlying genetic basis for macular degeneration and various other eye diseases in the hopes of aiding in the provision of new treatment options, and progress towards a cure.
In collaboration with the Foundation Fighting Blindness (FFB), one of the many ongoing projects within the Cole Eye Research Institute is an eye donation program. The program has been in existence for over 25 years, and the laboratory used for storing and examining the eye tissue has been at the Cole Eye Institute since 2001. Laboratory program director, Joe G. Hollyfield, PhD, was instrumental in organizing this program in the early 1980s.
The Eye Donor Program allows researchers to gain invaluable information from eye tissue affected by various retinal degenerative diseases (RDDs) such as Age-related Macular Degeneration, retinitis pigmentosa, Leber congenital amaurosis, Stargardt disease, and various others.
Since its inception, over 100 research papers have been published from analysis of tissues in this collection. The collection is unique in the world, and it is likely that no other collection of diseased tissues with genetic defects exists for any other organ system. Certainly, no other collection exists with this magnitude and breadth. This unique resource, continuously available for additional study, is a repository for new donations and available for distribution to interested laboratories worldwide. Indeed, for many research approaches, the tissues in the facility can be used indefinitely. For more information on the tissue inventory, please view the following document:
A substantial number of tissue distributions have been made to other laboratories that are pursuing research important to the goals of FFB. These include tissues from 60 donor eyes that have been distributed for analysis to 17 different investigators in the United States and abroad.
Investigators interested in using tissues from this collection should contact:
Joe G. Hollyfield | firstname.lastname@example.org
or the Foundation Fighting Blindness toll-free at 1.800.683.5555.
- Download a PDF listing of available tissue samples
- Download the "Application for Obtaining Tissue for Research
Since this collection was relocated to the Cole Eye Institute it has continued to be upgraded, and substantial new research has been conducted using both new donations that come to this facility as well as tissues that have been a part of the collection for many years. As the result of the research performed on these tissues at the Cole Eye Institute, 22 research publications have appeared and 28 poster presentations have been made at national/international meetings.
We would like to acknowledge and thank the following individuals and laboratories for their assistance with molecular analysis:
- Dr. John Chiang, Casey Eye Institute, Oregon Health and Science University
- Keith Nykamp, Prevention Genetics Laboratory
To study and learn more about inherited, rare retinal degenerative diseases, the Cole Eye Institute maintains a growing collection of eye tissue acquired from individuals affected with RDDs. These individuals have agreed to donate their eyes to FFB for research purposes. The eye tissue is stored and studied at the Cole Eye Institute. Because the tissue is preserved, it can be beneficial to researchers for years to come.
At the time of death of a registered donor, the donor’s family, physician, or eye bank contacts the 24-hour “Donor Hotline Number”—a special hotline restricted only for individuals who are FFB eye donors. The genetic coordinator receiving the donation calls will coordinate with the family and the eye bank nearest the donor to retrieve the tissue and arrange to have it shipped to the Cole Eye Institute. In order to be of most value and use, the tissue must be obtained and prepared within a few hours of death.
Once in the laboratory, various testing and examining of the tissue is performed, and detailed reports are generated. These reports and the tissue are then made available for other researchers studying inherited retinal degenerative disease.
Currently, a new initiative is underway to begin obtaining medical history, ophthalmic records, and family history information for individuals currently registered to donate. This will be done through a telephone interview with the Cole Eye Institute Genetic Coordinator, Meghan Marino, MS, GC. Upon review of each registrants’ information, by Elias Traboulsi, MD, Director of the Center for Genetic Eye Diseases, genetic testing may be pursued in order to have a confirmed molecular diagnosis. All of this information will be securely stored and made reference to when the donation has been made. This allows for further research to be done regarding the genetic basis on inherited RDDs, as well as make connections between the genetic changes with the eye tissue.
Who Can Participate?
Anyone affected with an inherited retinal degenerative disease is able to participate. Degree of vision loss does not matter. Examples of inherited retinal degenerative diseases studied include:
- Retinitis Pigmentosa
- Age-related macular degeneration
- Stargardt Disease
- Leber Congenital Amaurosis
- Usher Syndrome
- Cone Rod Dystrophy
- Rod Code Dystrophy
- Bardet-Biedl Syndrome
- Congenital Stationary Night Blindness
Note: This list does not include all of the RDDs studied by the Foundation Fighting Blindness/Cole Eye Institute joint program. If you have questions about whether or not the RDD you have is studied, call the RRB Retina Donor Coordinator at 410.423.0600.
Additionally, we also accept donations from blood relatives of people affected by the rare RDDs. Unfortunately, at this time, we cannot accept donations from unaffected blood relatives of individuals with age-related macular degeneration.
There are no costs for participation in the program. All expenses involved with the recovery of the eye donation are covered by the Foundation Fighting Blindness.
How To Register
Fill out and sign the following eye donor consent form, and send the completed form to Foundation Fighting Blindness (please do not send forms to Cleveland Clinic).
- Foundation Fighting Blindness Eye Donor Program Registration Form
Foundation Fighting Blindness
7168 Columbia Gateway Drive, Suite 100
Columbia, MD 21046
Upon registering, you will receive a wallet-sized card to certify that you are a donor. The card includes a 24-hour "Donor Hotline Number."
For help getting registered with the program or if you are in need of a donor replacement card, please contact the Donor Program Coordinator at the Foundation Fighting Blindness at 1.800.683.5555.
Activities regarding the Eye Donor Program are split between the Cole Eye Institute and the Foundation Fighting Blindness. For all inquiries regarding the eye donor process, for more information or questions about the program, or for all genetic-testing related concerns, please contact the Cole Eye Institute:
Meghan J. Marino, MS, GC
Genetic Coordinator/Eye Donor Coordinator
Cleveland Clinic Foundation
Cole Eye Institute-Ophthalmic Research
9500 Euclid Ave., i31
Cleveland, OH 44106
Cole Eye Researchers:
Joe G. Hollyfield, PhD
Chairman, Ophthalmic Research
Director, Histopathology Studies
Elias Traboulsi, MD
Professor of Ophthalmology
Director, The Center for Genetic Eye Diseases
Stephanie Hagstrom, PhD
Director, Laboratory for Genetic Analysis of Inherited Retinal Diseases
- For more information on the Foundation Fighting Blindness, please visit their website at: Foundation Fighting Blindness
- For patient-friendly material on genetics and genetic diseases, including the inherited retinal dystrophy disease, please visit: Genetics Home Reference
- To learn more about tissue donation, the recovery process, and eye bank accreditation, please go to: Eye Bank Association of America