An Infant With Poor Visual Response

Honey H. Herce, MD; Kimberly G. Yen, MD

Disclosures

July 09, 2014

Clinical Presentation

An 11-month-old full-term Hispanic boy was referred by his pediatrician for an ophthalmic evaluation.

According to the patient's father, he was initially seen by the pediatrician for failure to thrive. The parents also reported that the child was healthy and developing normally until about 4-5 months ago. The patient started to learn to crawl but did not progress further. He was able to coo but did not babble. He had trouble eating and frequently coughed and choked while eating. He also failed his hearing test twice.

The father was concerned that the patient's eyes did not appear to focus well. He reported that the child seemed to be developing vision initially, but at 5 months of age, he started to "just move his eyes around" and no longer appeared to see well. The family denied any eye crossing or turning out of the eyes. There was no family history of eye diseases.

On ocular examination, the child blinked to light with both eyes. He was unable to fixate on a target and was found to have roving eye movements when shown an object. No nystagmus was noted. His pupils were 4 mm, with a sluggish pupillary response and no relative afferent pupillary defect. He was found to have full motility as observed with spontaneous movements, and an exotropia of 30 prism diopters was observed by the Hirschberg test at near.

Examination of the anterior segment was normal in both eyes. Indirect ophthalmoscopy revealed bilateral cherry-red spots in his maculae, with normal optic nerves, vessels, and periphery (Figure).

Figure. (a) Indirect ophthalmoscopy of the right eye. (b) Indirect ophthalmoscopy of the left eye.

He was referred for genetic testing and found to be homozygous for a hexosaminidase B variant.

Comments

3090D553-9492-4563-8681-AD288FA52ACE
Comments on Medscape are moderated and should be professional in tone and on topic. You must declare any conflicts of interest related to your comments and responses. Please see our Commenting Guide for further information. We reserve the right to remove posts at our sole discretion.
Post as:

processing....