OCULAR FEATURES ASSOCIATED WITH MUTATIONS IN ATOH7 GENE OVERLAP THOSE WITH FAMILIAL EXUDATIVE VITREORETINOPATHY.

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. Genetic testing of the ATOH7 gene was performed. RESULTS: The three patients had varying degrees of intraocular vascular proliferation associated with advanced retinal detachments as falciform retinal folds or total retinal detachments. This state is referred to as congenital retinal nonattachment. One eye of a sibling had fluorescein angiographic findings of excessive branching of the retinal vessels and fluorescent dye leakage that were consistent with those of familial exudative vitreoretinopathy. Bilateral hypoplasia of the optic nerve was found in all three patients by magnetic resonance imaging. Genetic analysis showed a known in-frame deletion of the ATOH7 gene in all three patients. CONCLUSION: This is the first report of a patient with a mutation in the ATOH7 gene that had typical vascular patterns of familial exudative vitreoretinopathy in the peripheral retina. The ocular features associated with mutations in the ATOH7 gene overlap those with familial exudative vitreoretinopathy at the early and advanced stages.

Advanced lung adenocarcinoma detected by choroidal metastasis in a patient with amyopathic dermatomyositis: A case report.

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. When ocular symptoms are observed in DM patients, metastatic malignancies should be suspected, and systemic examinations, such as positron emission tomography (PET)-CT, should also be performed.