{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,12]],"date-time":"2026-03-12T02:26:59Z","timestamp":1773282419097,"version":"3.50.1"},"reference-count":32,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2018,5,23]],"date-time":"2018-05-23T00:00:00Z","timestamp":1527033600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Unrestricted grant to the Wilmer Eye Institute from Research to Prevent Blindness"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Brain Pathology"],"published-print":{"date-parts":[[2019,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We have identified a discrete, focal telomere DNA expansion phenotype in the photoreceptor cell layer of normal, non\u2010neoplastic human retinas. This phenotype is similar to that observed in a subset of human cancers, including a large fraction of tumors of the central nervous system, which maintain their telomeres via the non\u2010telomerase\u2010mediated alternative lengthening of telomeres (ALT) mechanism. We observed that these large, ultra\u2010bright telomere DNA foci are restricted to the rod photoreceptors and are not observed in other cell types. Additionally, focus\u2010positive rod cells are dispersed homogeneously throughout the posterior retinal photoreceptor cell layer and appear to be human\u2010specific. We examined 108 normal human retinas obtained at autopsy from a wide range of ages. These large, ultra\u2010bright telomere DNA foci were not observed in infants before 6 months of age; however, the prevalence of focus\u2010positive rod cells dramatically increased throughout life. To investigate associations between this phenotype and retinal pathology, we assessed adult glaucoma (N\u2009=\u200929) and diabetic retinopathy (N\u2009=\u200938) cases. Focus\u2010positive rod cells were prominent in these diseases. When compared to the normal group, after adjusting for age, logistic regression modeling revealed significantly increased odds of falling in the high category of focus\u2010positive rod cells for glaucoma and diabetic retinopathy. In summary, we have identified a dramatic telomere alteration associated with aging and diseases affecting the retina.<\/jats:p>","DOI":"10.1111\/bpa.12618","type":"journal-article","created":{"date-parts":[[2018,4,18]],"date-time":"2018-04-18T16:03:46Z","timestamp":1524067426000},"page":"45-52","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["A unique telomere DNA expansion phenotype in human retinal rod photoreceptors associated with aging and disease"],"prefix":"10.1111","volume":"29","author":[{"given":"W. Robert","family":"Bell","sequence":"first","affiliation":[{"name":"Departments of Pathology, Johns Hopkins University School of Medicine Baltimore MD"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alan K.","family":"Meeker","sequence":"additional","affiliation":[{"name":"Departments of Pathology, Johns Hopkins University School of Medicine Baltimore MD"},{"name":"Departments of Oncology, Johns Hopkins University School of Medicine Baltimore MD"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anthony","family":"Rizzo","sequence":"additional","affiliation":[{"name":"Departments of Pathology, Johns Hopkins University School of Medicine Baltimore MD"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sumit","family":"Rajpara","sequence":"additional","affiliation":[{"name":"Departments of Pathology, Johns Hopkins University School of Medicine Baltimore MD"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ian M.","family":"Rosenthal","sequence":"additional","affiliation":[{"name":"Departments of Pathology, Johns Hopkins University School of Medicine Baltimore MD"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Miguel","family":"Flores Bellver","sequence":"additional","affiliation":[{"name":"Departments of Ophthalmology, Johns Hopkins University School of Medicine Baltimore MD"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Silvia","family":"Aparicio Domingo","sequence":"additional","affiliation":[{"name":"Departments of Ophthalmology, Johns Hopkins University School of Medicine Baltimore MD"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiufeng","family":"Zhong","sequence":"additional","affiliation":[{"name":"Departments of Ophthalmology, Johns Hopkins University School of Medicine Baltimore MD"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John R.","family":"Barber","sequence":"additional","affiliation":[{"name":"Departments of Epidemiology Johns Hopkins Bloomberg School of Public Health Baltimore MD"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Corinne E.","family":"Joshu","sequence":"additional","affiliation":[{"name":"Departments of Oncology, Johns Hopkins University School of Medicine Baltimore MD"},{"name":"Departments of Epidemiology Johns Hopkins Bloomberg School of Public Health Baltimore MD"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M. 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