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Kieron Torres, Verity Oliver, Raymond Enke, Jin Song, Shannath Merbs; Comparative Analysis of Donor Medical History and Disease Attributes. Invest. Ophthalmol. Vis. Sci. 2013;54(15):1577.
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Age-related macular degeneration (AMD) and primary open angle glaucoma (POAG) are among the leading causes of blindness worldwide. We aim to identify DNA methylation patterns associated with AMD and POAG through a genome-wide analysis of affected cells being collected from control or diseased human eyes. This purpose of this study was to determine the accuracy of the tissue bank diagnosis by photographic and histologic methods.
Adult human eyes were obtained from NDRI and the Maryland Anatomy Board. Donor eyes were labeled as either control (no history of retinal disease, POAG or AMD), POAG or AMD based on what was listed under diagnoses in the provided donor medical history. POAG or AMD eyes that had additional information including duration of disease, type of AMD, or treatment details were considered as confirmed, and eyes without as unconfirmed. Diagnosis of POAG was verified by grading optic nerve cross-sections to determine the presence of axonal loss. AMD was verified by grading retinal images taken during eye dissection for posterior fundus pathology.
24 control, 13 POAG and 14 AMD donors were identified. 23 of 24 controls had normal fundus photos and no axonal loss in at least 1 eye. The majority of the POAG (11) and AMD (10) donors were confirmed by additional history from NDRI. 6 of 11 confirmed POAG individuals were verified by axonal loss. 6 of 10 confirmed AMD donors were verified by photo grading, and of these, 5 had at least one eye without axonal loss. Additional confirmation of AMD by histologic section is ongoing.
To facilitate short preservation times, tissue banks often do not have access to comprehensive donor medical histories. Even donor eyes with an accurate ocular history may not have disease-associated pathology if obtained within early stages of the disease or if treatment had slowed progression. Additionally, control eyes may have undiagnosed or unrecorded POAG or AMD, making them inappropriate as controls. Our study shows that diagnoses need to be verified by histologic and photographic methods.
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