Cleveland Clinic Cole Eye Institute 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.
The Cole Eye Institute houses a collection of eye tissues from donors with retinal degenerations, previously funded by the Foundation Fighting Blindness (FFB).
The Eye Donor Program allowed 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 for over 25 years.
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 ocular tissues with genetic defects of this magnitude and breadth exists elsewhere. This unique resource, continuously available for additional study, is available for distribution to interested laboratories worldwide in collaborative studies at no cost (except for shipping). 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 to the goals of understanding retinal degenerative diseases. These include tissues from ~100 donor eyes that have been distributed for analysis to >35 different investigators in the United States and abroad.
Since this collection was relocated to the Cole Eye Institute in 2001 substantial new research has been conducted. 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.
Overview of Cole Eye Institute's Rare Eye Donor Tissue Inventory
Foundation Fighting Blindness supported the initial collection of whole globes post mortem from donors with retinitis pigmentosa, Usher syndrome, Stargardt disease, age-related macular degeneration, and other rare inherited retinal degenerative diseases (RDDs). The collection does not include normal eyes.
The collection is housed at the Cleveland Clinic Foundation, Cole Eye Institute under the direction of Bela Anand-Apte, MD, PhD and Vera L. Bonilha, PhD.
Over 1000 pairs of eyes have been collected since the mid-1980s.
Most of the tissue samples were fixed in a buffered 4% paraformaldehyde-0.5% glutaraldehyde solution or 10% formalin when the FFB fixative was not available. Upon receiving, the tissue was cut through the ora serrata and anterior and posterior segments and transferred to buffered 2% paraformaldehyde made in D-PBS. Whole globes are imaged before the globes are cut and the tissue is processed for analysis. Detailed information regarding the fixation of individual samples is included in each donation’s pathology report.
Initial fundus microscopy examination is done by Dr. Bonilha and her staff and they provide pathology reports for all donations that are then made available to researchers upon request. Before any tissue is cut and used for further studies, ex-vivo images of the whole globes are obtained by OCT and SLO.
The most useful donor eyes on which detailed follow up analysis is performed are those with full clinical history and the genetic basis of the disease established. Such donations are extremely rare. More recently, we have successfully isolated DNA from fixed tissue and used these to perform genotyping.
Tissue samples are available to interested laboratories worldwide in collaborative studies at no cost (except for shipping). Investigators interested in using tissue from the Cole Eye Institute tissue repository should complete the “application for obtaining ocular tissue for research” and submit it to Bela Anand-Apte at firstname.lastname@example.org and Vera L. Bonilha at email@example.com. Drs. Anand-Apte and Bonilha will determine if there is tissue available in the collection to meet the investigator’s request.
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.
For all inquiries regarding the Cole Eye Institute Eye Tissue Collection, or for more information or questions about the program, or for all genetic-testing related concerns, please contact the Cole Eye Institute:
Vera L. Bonilha, PhD
Director Eye Tissue Biobank, Cole Eye Institute
Bela Anand-Apte, MBBS, PhD
Department Chair, Ophthalmic Research, Cole Eye Institute