history:A 25-month-old, Caucasian girl presented for evaluation of high myopia, decreased vision, new onset nystagmus and anomalous head posture (AHP). The parents noted decreased vision, nystagmus, photophobia, nycloptia and AHP 8-10 weeks prior to examination. The patient had an uncomplicated prenatal and birth history with subsequent normal growth and development. She was healthy other than a history of uncomplicated otitis media. There was no history of trauma, recent illness or new medications. Her family history was notable for myopia, amblyopia, and a paternal cousin diagnosed with “optic neuropathy” at age 3 years.
PE:Initial exam revealed an alert, cooperative, age-appropriate 25-month-old girl with a left head turn of approximately 30-40 degrees. The patient was noted to have central, unsteady, and unmaintained fixation OU. The pupils were of equal size without an afferent pupillary defect. During an MRI under sedation, intraocular pressures (IOP) were 32-36 mmHg OD and 30-38 mmHg OS. Her corneal diameters were 12.5 mm OU without evidence of edema, infiltrate, or neovascularization. Haab’s striae ran longitudinally in the inferior corneas of both eyes. On gonioscopy, the angle appeared anomalous with a high anterior insertion of a flat iris. The lenses and vitreous were clear OU. Dilated fundoscopic exam demonstrated a 0.9 X 0.9 cup-to-disc ratio OD and 0.9 X 0.8 cup-to-disc ratio OS. Both nerve heads showed pallor and deep cupping. An image of the left nerve is shown in Figure 1. Her refraction was -9.00 +2.00 x180 OD and –7.00 +2.50 x180 OS. The MRI was normal. Combination timolol-dorzolamide ophthalmic drops were initiated, trabeculotomy was scheduled, and the patient was referred for further evaluation of her nystagmus.
Additional examination revealed full versions and ductions and a comitant esotropia. The patient had a left AHP, preferring right gaze. She had variable, symmetric, conjugate, small-to-moderate amplitude, and moderate-to-high frequency multiplanar involuntary ocular oscillations with a null position in right gaze of 30-40 degrees. There was no latent component and saccades, pursuit, and vestibulo-ocular reflexes were otherwise normal.
diag_link: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.