Three Presentations of Female Relatives Affected by 11778 Mutation of Leber's Hereditary Optic Neuropathy (LHON)

Three female cousins presented with unexplained vision loss. The first (19-year-old) developed acutely blurred vision OD; she kept missing the ball during soccer practices. The second (34-year-old in her second pregnancy) reported a history of optic neuritis OS after painless vision loss during her first pregnancy. She had periventricular plaques characteristic of multiple sclerosis (MS). The third (37-year-old) described debilitating headaches and decreased vision OD; she had previously been diagnosed as malingering.