<b>Conclusion:</b> This case expands the spectrum of <i>LRP5</i> gene mutations among Chinese patients with familial exudative vitreoretinopathy, and it is the first time to report a patient harboring both LRP5 and OPA1 gene mutations having anisometropic amblyopia and strabismus as the primary manifestations. The gene discussed is OPA1; the disease is Familial exudative vitreoretinopathy.