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.