Marcus-Gunn pupil in tuberous sclerosis: a case report
The present case has been reported in the journal Neurology. A 22-year-old woman with tuberous sclerosis (TS) and an incomplete resection of a left-sided astrocytoma presented with a 4-year history of visual deterioration. Neurologic examination revealed a left relative afferent pupillary defect (RAPD) (video available) with a pale left optic disc.

Visual acuity was 20/100 bilaterally and a left-sided superior visual field loss was seen. Optical coherence tomography showed a left retinal hamartoma. Contrast-enhanced brain MRI showed bilateral cortical and subcortical tubers.

Marcus-Gunn pupil or RAPD is a nonspecific feature denoting optic neuropathy. TS ophthalmopathy includes retinal and iris hamartomas, choroid colobomas, and hypopigmented lesions on iris and ciliary body.

Source: http://n.neurology.org/content/91/7/e694
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