Congenital anomalies of the optic nerve in one family

We present three cases of congenital optic disc anomalies in one family who underwent an extensive diagnostic workup to exclude any intracranial pathology. One patient had elevated optic nerve heads and was hospitalized for multiple diagnostic tests including a lumbar puncture and magnetic resonance imaging scan. This patient had a sister with a previous history of having undergone head and orbital computed tomography to evaluate her symptoms of headaches with anomalous optic nerve heads. The third patient was the father of the other two patients who had previously undergone an extensive evaluation for elevated optic nerve heads and was treated for presumed pseudotumor cerebri with fenestration of the optic nerve sheath. These cases underscore the importance of a detailed family history and examination of family members to exclude congenital abnormalities of the optic nerve head before beginning an extensive workup.