When a WEINO Goes Blind - Video

The MRI and magnetic resonance spectroscopy tests were evaluated and a lactate peak and peripheral rim of restricted diffusion were identified, these coupled with the decreased vision and OCT findings were consistent with a mitochondrial disorder. Genetic testing revealed the m.11778G>A mtDNA mutation, associated with LHON. The patient was placed on Thiamine (200mg daily) and Coenzyme Q10 (300mg daily) which was switched to Idebenone (900mg TID) upon discovery of the LHON mutation. Further brain MRI after 5 months revealed a decrease in the size of the area of enhancement in the dorsal midbrain. His bilateral INO, however, did not improve and he developed a central scotoma bilaterally, consistent with LHON. Seven months after onset his best corrected vision was 20/150 OD, 20/100 OS. He was unable to identify any Ishihara color plates with the right eye but was able to see 6/14 plates with the left using eccentric fixation. There was no RAPD. The slit lamp examination and the remaining neurological examination was within normal limits. Eight months after onset he developed subacute bulbar symptoms and sudden hypercarbic respiratory failure requiring intubation. MRI showed increased hyperintense changes involving the brainstem and the spinal cord extending to T1. Idebenone was maintained at 900 mg daily. Levetiracetam was added because of multifocal myoclonus, as well as L-arginine, dexamethasone and antioxidants: thiamine, riboflavin, vitamin C, E, alpha-lipoic acid. A ketogenic diet was also started. He made no respiratory effort until day 7 into his admission, but managed extubation on day 8. He continued to improve, but had reduced visual acuity to 2/36 bilaterally. Rapamycin was started on a trial basis, but he developed pyrexia and abdominal side effects as a complication. The patient was discharged from hospital on day 21, and continued to recover and returned to school despite severe vision impairment.