Visual Observations of an American Patient With Leber Hereditary Optic Neuropathy After Purported Injections of Stem Cells in China

Report of a Case. A 42-year-old woman noted vision loss in August 2009. Visual acuity was 20/80 (55 Early Treatment Diabetic Retinopathy Study [ETDRS] letters) OD and 20/40 (71 ETDRS letters) OS. Automated visual field testing revealed bilateral central scotomas, with mean defects of −2.31 dB OD and −0.80 dB OS (Figure 1). The optic nerve heads were swollen with peripapillary telangiectasias characteristic of acute Leber hereditary optic neuropathy. The mean thicknesses of the retinal nerve fiber layers were substantially increased to 130 μm OD and 134 μm OS (Figure 2). The level of serum phosphorylated neurofilament heavy chain, a biomarker of axonal injury, was elevated at 0.29 ng/mL (normal, 0.07 ng/mL). Genetic analysis showed homoplasmy for mutated G11778A ND4 mitochondrial DNA. Three months later, the patient went to the Chengyang People’s Hospital, Qingdao, China, where she received 4 intravenous and 2 intrathecal infusions of