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Vanessa Goodwill, Jonathan H Lin, Christina Sigurdson, Henry Sanchez, Michael Geschwind; Retinal Prion Protein Deposition in Sporadic Creutzfeld-Jakob Disease: A Retrospective Study of 14 Cases. Invest. Ophthalmol. Vis. Sci. 2018;59(9):5020. doi: https://doi.org/.
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© ARVO (1962-2015); The Authors (2016-present)
Visual symptoms are commonly reported by patients with sporadic Creutzfeldt-Jakob disease (sCJD), a human spongiform encephalopathy, but the expression of abnormal prion protein (PrPSc) in eyes from sCJD patients has not been systematically investigated. Knowing the presence of PrPSc in the eye is important to assess the risk of transmission from common ophthalmic surgical procedures, and may enable earlier diagnosis via targeted ophthalmic imaging modalities. We performed a retrospective immunohistochemical analysis of PrPSc deposition in the retinas of confirmed prion disease cases collected from post-mortem enucleations.
From December 2015 to May 2017, 28 eyes were collected from 14 autopsies of clinically suspected prion disease and 6 of non-prion disease at a single institution. sCJD was confirmed by brain autopsy and genetic analysis of the PRNP gene. Immunohistochemistry was performed with antibodies against PrP and PrP deposition within the retina was evaluated and compared to normal controls. Subjects included both male and female patients with ages ranging from 51–80 years old. The clinical disease course ranged from 2–24 months.
In 12 of the 14 prion disease cases PrPSc deposits were observed in the retina by immunohistochemistry. No PrPSc deposits were identified in any of the 6 controls. PrPSc deposition was limited to the outer and inner plexiform layers of the retina and was most prominent in the outer plexiform layer, with the majority of cases exhibiting coarse, 5-10 um well-aligned ovoid deposits. In the sclera, cornea, lens, and optic nerve, no deposits were observed.
PrPSc deposits were present in a majority of retinas of patients with prion disease and can be detected immunohistochemically. Our findings confirm previous isolated case reports of retinal PrPSc expression in the largest series of documented prion cases to date. We suggest that the retina potentially serves as a diagnostic target in clinically suspected prion disease. Additionally, retinal involvement may contribute to visual symptoms associated with prion disease.
This is an abstract that was submitted for the 2018 ARVO Annual Meeting, held in Honolulu, Hawaii, April 29 - May 3, 2018.
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