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

We describe our clinical observations of a patient with Leber hereditary optic neuropathy and acute vision loss. She received what she was told were umbilical cord blood stem cells by a clinic in Qingdao, China.
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.

Figure 1. Humphrey visual field (30-2 threshold) changes are shown in both eyes at the baseline visit before treatment, 3 months after purported stem cell therapy (the fields show dense central scotomas), 9 months after purported stem cell therapy, and 15 months after purported stem cell therapy.

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Figure 2. Fundus photographs. Bilateral optic disc edema was present with peripapillary telangiectasias at the baseline visit before treatment. The optic disc edema had resolved 3 months after purported stem cell therapy. Optic atrophy was prominent 9 months and 15 months after purported stem cell therapy.

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Three months later, the patient went to the Chengyang People’s Hospital, Qingdao, China, where she received 4 intravenous and 2 intrathecal infusions of what were purported to be umbilical cord blood stem cells according to the schedule listed in the Table; the number of cells infused was not available. Three months after the infusions, visual acuity had worsened to 20/400 (20 ETDRS letters) OD and 20/500 (15 ETDRS letters) OS. Central scotomas were much denser with mean defects of −19.86 dB OD and −21.98 dB OS (Figure 1). Optic disc swelling resolved, with mean retinal nerve fiber layer thicknesses of 97 μm OD and 91 μm OS (Figure 2). The serum phosphorylated neurofilament heavy chain (square root) level had increased to 0.54 ng/mL. Nine months after purported stem cell therapy, visual acuity had worsened further to 20/600 (13 ETDRS letters) OD and 20/800 (4 ETDRS letters) OS. Optic atrophy was prominent with mean retinal nerve fiber layer thicknesses of 67 μm OD and 69 μm OS. Fifteen months after the infusions, the patient’s visual acuity stabilized at 20/600 (14 ETDRS letters) OD and 20/700 (8 ETDRS letters) OS. Optic atrophy persisted with mean retinal nerve fiber layer thicknesses of 69 μm OD and 58 μm OS.
While we do not know for certain that this patient received umbilical cord blood stem cells but assume that she did, this is the first peer-reviewed report to our knowledge describing the visual results of treatment with intravenous and intrathecal stem cells in China or elsewhere for vision loss from Leber hereditary optic neuropathy or any other optic neuropathy. The progression of vision loss in our patient with initial optic nerve head swelling followed by optic atrophy is characteristic of the natural history of Leber hereditary optic neuropathy.^1– 3 In this well-documented case, intravenous and intrathecal umbilical cord blood stem cell therapy failed to stop the decline in visual function or to prevent optic atrophy. Not withstanding website testimonials, there is no medical evidence that this purported therapy works for optic neuropathies. Therefore, patients and physicians should be cautious in seeking an unproven remedy for a disease that at present has no effective therapy.