Kimberly G. Yen, MD

Disclosures

October 13, 2009

Clinical Presentation

A 4-year-old girl with a reported history of developmental delay was brought to the eye clinic by her mother due to concern that she was unable to move her eyes. Her mother stated that she was not sure when these symptoms first began. However, she did believe that the child could see because she was able to reach for objects in front of her. Mom noted no crossing of the eyes, no unusual protrusion of the eyes, and no recent red eye or unusual discharge. She reported that the toddler was born via cesarean section, performed for failure to progress, but otherwise was the product of a normal full-term pregnancy. The mother was not aware of any other individuals in the family with vision or motility difficulties.

On external examination, the patient was noted to be drooling and to have a masked, expressionless facies. Pupils were brisk in both eyes, with no relative afferent pupillary defect. She was able to fix and follow vertically with both eyes. Her motility examination showed an inability to adduct or abduct both eyes beyond her midline. She did, however, have full supraduction and infraduction. She was orthotropic in primary position (Figures 1-4). Her visual fields appeared full to distraction in both eyes. Anterior segment examination was within normal limits in both eyes. Fundus examination showed pink, healthy nerves, with cup-disk ratios of 0:1, and normal posterior poles and peripheries.

Figure 1. Lateral gaze.

Figure 2. Supraduction.

Figure 3. Infraduction.

Figure 4. Primary position.

Question 1. What other abnormality would you not expect this toddler to have on physical examination?

A. Limb abnormalities
B. Low-set ears
C. Corneal abrasions
D. Broad nasal root

View the correct answer

Question 2. This patient most likely has:

A. Normal intellect
B. Severe mental retardation
C. Myopia
D. Hyperopia

View the correct answer

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