National Institutes of Health scientists and their colleagues found evidence of infectious agent of sporadic Creutzfeldt-Jakob disease (CJD) in the eyes of deceased patients with CJD. The results indicate that the eye may be a source of early diagnosis of CJD and poses questions about routine eye examination and corneal transplantation. The sporadic CJD, a deadly neurodegenerative prion disease in humans, can not be treated and difficult to diagnose.
Prion's disease is caused when the normally-safe molecules of prionic proteins become abnormal and accumulate in clusters and filaments in the body and brain. Scientists hope that early diagnosis of prions and related diseases – such as Alzheimer's disease, Parkinson's disease, and Lewy's dementia – could lead to effective treatments that slow down or prevent these diseases. Scientists from the National Institute for Allergies and Infectious Diseases NIH (NIAID) co-operated with colleagues from California University of San Diego and UC San Francisco.
About 40 percent of sporadic CJD patients develop eye problems that could lead to eye examination, meaning that there is a potential for contamination of eye examination equipment intended for reuse. Furthermore, transplantation of corneal corneas from undiagnosed CJD patients resulted in two probable and three possible cases of disease transmission, researchers say.
Previous studies have shown that the eyes of CJD patients contain contagious prion, though the prion distribution among the various components of the eye was not known. To answer this question, scientists have engaged 11 CJD patients who agreed to donate their eyes after death. The researchers found evidence of prion infection in the eyes of all 11 dead patients who used Real-Time Conversion (RT-QuIC), a highly sensitive test NIAID scientists have developed to detect prion sowing activity as evidence of infection.
The RT-QuIC test is used in clinical conditions for diagnosing sporadic CJD in humans. Researchers will continue to work to evaluate available eye or fluid components as feasible diagnostic testing sources. They also plan to use other RT-QuIC tests to evaluate the eyes of patients with Alzheimer's, Parkinson's, and Lewy's dementia to determine if infectious proteins present in these disease processes are present.