A 5–year-old girl is referred for “horizontal eye movements”. Examination confirmed high-amplitude, low-frequency, symmetric horizontal nystagmus and hyperopia.
The family reports that she also has light sensitivity and that she has a hard time identifying colors. She is otherwise entirely well. An MRI of the brain performed prior to referral was normal.
The child’s best corrected visual acuity is 20/400 OU. Pupillary responses are normal as is the anterior segment examination. The posterior segment is as shown below.
Author: Lorena de Melo Haefeli, Flaum Eye Institute – University of Rochester, NY, USA.