A 63-year-old Japanese man with amyopathic dermatomyositis treated with immunosuppressants became aware of distortion of his left visual field, and a metastatic choroidal tumor was suspected. His chest computed tomography (CT) showed a pulmonary nodule in the right upper lobe and mediastinal lymphadenopathy, and he was diagnosed with advanced lung adenocarcinoma with choroidal metastasis. Malignancies associated with dermatomyositis (DM) are often rapidly progressive and, in choroidal metastasis associated with lung cancer, a choroidal lesion is often diagnosed prior to lung cancer; therefore, CT performed at the time of diagnosis of choroidal metastasis may show lung cancer lesions.
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November 2023
Background/purpose: To report the ocular findings in three patients with a mutation in the ATOH7 gene.
Methods: The clinical findings were collected from the medical records including those for magnetic resonance imaging. Three patients of two families who had poor vision since infancy were studied.