A 35-year-old man presented after experiencing a 5-minute episode of generalized tonic-clonic seizure 3 days earlier. No other accompanying symptoms were reported. He had experienced painless decrease of vision in both eyes for 6 years but did not seek medical care. He had had hypertension for 3 years, with amlodipine taken regularly. A sibling developed uremia in their 30s. A parent died of kidney failure in their 40s. On results of an ophthalmic examination, his best-corrected visual acuity was 20/50 OD and 20/40 OS, without visual field defects, dyschromatopsia, or relative afferent pupillary defect. Extraocular movements were intact. Neurologic examination findings were unremarkable except for mild cognitive impairment. Fundus fluorescein angiography showed retinal vasculitis (Figure, A). Enhanced magnetic resonance imaging (MRI) of the brain showed diffuse white matter hyperintensities—leukoencephalopathy—with multiple ring-enhancing lesions (Figure, B). Results of routine blood tests were significant for kidney insufficiency (proteinuria, 3.47 g of protein in 24 hours; estimated glomerular filtration rate, 38.5 mL/min). Angiotensin-converting enzyme level and serum tumor marker findings were normal. Infection panel screenings for hepatitis, HIV, syphilis, tuberculosis, and parasites were negative. Antinuclear antibodies and antineutrophil cytoplasmic antibodies were negative. Whole-body positron emission tomographic/computed tomographic (PET/CT) imaging detected no hypermetabolic changes. The cerebrospinal fluid (CSF) profiling, including cytologic analysis, was normal. Culture of the CSF and blood was negative for bacteria and fungus.
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Corresponding Author: Qiying Sun, MD, PhD, Department of Geriatrics, Xiangya Hospital, Central South University, Xiangya Road 87#, Changsha 410008, China (firstname.lastname@example.org).
Published Online: December 17, 2020. doi:10.1001/jamaophthalmol.2020.4620
Conflict of Interest Disclosures: Dr Xie reported receiving grants from the National Key Plan for Scientific Research and Development of China during the conduct of the study as well as outside the submitted work. Dr Sun reported receiving grants from the National Key Plan for Scientific Research and Development of China during the conduct of the study and from National Natural Science Foundation of China outside the submitted work. No other disclosures were reported.
Funding/Support: This work was supported by grant 2017YFC0909100 from the National Key Plan for Scientific Research and Development of China (Dr Sun).
Role of the Funder/Sponsor: The funder had no role in the design and conduct of the study; collection, management, analysis, and interpretation of the data; preparation, review, or approval of the manuscript; and decision to submit the manuscript for publication.
Additional Contributions: We thank the patient and his family members for granting permission to publish this information.
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