Quiz: Is My Daughter Going Blind?

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.

11 thoughts on “Quiz: Is My Daughter Going Blind?”

  1. A few comments: First, achromatopsia is rarely a cause for 20/400 equivalent acuity. Second, the protocol says that the pupil responses are normal. That is highly unlikely, since almost all achromatopsia patients manifest a Flynn-Barricks pupil. Third, I cannot justify a fluorescein angiogram in this situation, as it is neither classifying nor diagnostic.


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