Two-year-old girl presents with poor vision, nystagmus and bilateral optic nerve pallor

A 2-year-old girl presented to the New England Eye Center because her parents were concerned about her eyesight. Her parents noticed that she was holding her toys close to her face and that she seemed to have trouble tracking objects. They observed that she did not seem to make direct eye contact with people speaking to her although she did look in their general direction. She also seemed to be fearful of other children. The aforementioned behavior prompted the parents to seek an evaluation for possible autism, which revealed normal social behavior.She was otherwise a healthy little girl. She was born full-term by Caesarean section because the umbilical cord was wrapped around her neck, but her birth history was otherwise uneventful. Her mother had no reported harmful exposures during pregnancy, and all of the patient’s immunizations were up to date. Her ocular history was significant for a left nasolacrimal duct obstruction that was probed at 1 year of age. The patient’s mother denied any personal family history of ophthalmic disease. The patient’s father had a mild exotropia when he was younger.