BACKGROUND: Leber's hereditary optic neuropathy (LHON) is a mitochondrial disorder with optic nerve atrophy. Although there are no other associated neurological abnormalities in most cases of LHON, cases of "LHON plus" have been reported. CASE REPORT: The proband was a 37-year-old man who had visual and gait disturbances that had first appeared at 10 years of age. He showed horizontal gaze palsy, gaze-evoked nystagmus, dysarthria, and cerebellar ataxia. Brain and orbit MRI disclosed atrophy of the optic nerve and cerebellum, and degenerative changes in the bilateral inferior olivary nucleus. Mutational analyses of mitochondrial DNA identified the coexistence of heteroplasmic G11778A and homoplasmic T3394C mutations. CONCLUSIONS: These results suggest that the combination of G11778A and T3394C mutations leads to an atypical LHON phenotype.
Adult ; Atrophy ; Brain ; Cerebellar Ataxia ; Cerebellum ; DNA, Mitochondrial ; Dysarthria ; Gait ; Humans ; Mitochondria ; Mitochondrial Diseases ; Olivary Nucleus ; Optic Atrophy, Hereditary, Leber ; Optic Nerve ; Orbit ; Paralysis ; Phenotype

We here report three cases of choroidal metastases with ocular pain and visual symptoms treated with palliative irradiation. Case 1: A 71-year-old woman was treated with chemotherapy for multiple metastases after surgery for right breast cancer. Sixteen years after surgery, a right choroidal metastasis with ocular pain and visual disturbance was detected. Palliative irradiation to this lesion achieved reduction in ocular pain and shrank the tumor. Case 2: A 54-year-old man presented with right ocular pain and abnormal vision and was diagnosed as having right lung cancer with multiple systemic metastases. Palliative irradiation to a right choroidal metastasis achieved reduction in ocular pain and shrank the tumor. Case 3: A 71-year-old woman developed left eye pain 17 months after surgery for lung cancer in the right upper lobe. She was diagnosed as having a left choroidal metastasis. After palliative irradiation, the tumor shrank and the left eye pain temporarily resolved. Palliative radiation therapy for choroidal metastasis with ocular pain and visual symptoms seems to be effective in improving symptoms.