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.
Very interesting. Please keep it up
This was so tricky, buy learnt something.
Maculadegeneration
This is an exciting clinical scenarios.
It’s a complicated situation which needs serious attention.
Thanks for good revision
Interst quize.. Thanks
Nice and very interesting.
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.
Thanks this is amazing
It was really an interesting case and difficult to figure out.