Eye Exam May Lead to Early Diagnosis of Creutzfeldt-Jakob Disease


A National Institutes of Health (NIH) study found that the eye may be a source for early diagnosis of Creutzfeldt-Jakob disease (CJD). The findings also raise the possibility of the disease being spread via corneal transplants and routine eye exams. 

The scientists found prion seeds, the infectious agent of the disease, in the eyes of deceased CJD patients. The researchers recruited 11 CJD patients who agreed to donate their eyes upon death and found evidence of prion infection throughout the eyes of all 11 deceased patients. The team used real-time quaking-induced conversion (RT-QuIC), a test that detects prion seeding activity as evidence of infection.

The findings stated that examination of transplanted corneas from deceased, undiagnosed CJD patients led to two probable and three possible cases of disease transmission via the transplants. Also, since 40% of sporadic CJD patients develop eye problems that lead to an eye exam, the potential exists for contamination of eye exam equipment designed for repeat use.

Previous studies have shown that the eyes of CJD patients contain infectious prion seeds, but the distribution of prions among the components of the eye was not known. The researchers will evaluate accessible eye components or fluids as feasible diagnostic testing sources. 

The scientists plan to use RT-QuIC testing to evaluate the eyes of patients with Alzheimer’s, Parkinson’s, and dementia with Lewy bodies to determine whether infectious proteins from those disease processes are present.


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