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A 25-month-old girl with vision loss, nystagmus, and anomalous head posture
Digital Journal of Ophthalmology 2009
Volume 15, Number 1
February 23, 2009
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Joel Metzger, MD | Senior Flight Surgeon, Training Air Wing Six, Pensacola, FL, USA
Richard Hertle, MD | Children's Hospital of Pittsburgh, Pittsburgh, PA, UPMC Eye Center, Eye & Ear Institute, Pittsburgh, PA, and University of Pittsburgh School of Medicine, Pittsburgh, PA, USA
John Avallone, MD | Ophthalmology Associates of Greater Annapolis
Edward Cheeseman, M.D. | University of South Carolina School of Medicine, Charleston, SC and Uniformed Services University of the Health Sciences, Bethesda, MD, USA
Diff DX
Infantile nystagmus and compensatory head posturing may be associated with any process that results in visual deprivation such as media opacities, optic nerve disease, retinal abnormalities, or abnormalities of the afferent visual pathways. It is also associated with metabolic disease, drug use, or structural disease of the brainstem and cerebellum. Careful patient history revealed no birth or childhood trauma, patient medications, drug or alcohol use by the mother, or other congenital disease. Since the child was otherwise developmentally normal, serious metabolic disease or neurodegenerative disorder was highly unlikely. Detailed examination demonstrated no opacities of the lens or vitreous, the globe was structurally normal, and the retina appeared normal. A normal MRI ruled out any structural brain disease.

In this case, detailed examination of the patient revealed elevated intraocular pressures, severe myopia, Haab’s striae, and enlarged optic cups with pallor and deep cupping. The combination of these findings point to advanced infantile glaucoma.