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    Uncovering diagnostic clues, insights in pediatric neurodegenerative cases

    Document the afferent, efferent findings to help narrow diagnostic workup

    Reviewed by Gena Heidary, MD, PhD

    Awareness of the neuro-ophthalmic findings in pediatric neurodegenerative diseases might yield insight into the diagnosis of these diseases, and the ophthalmic clues should not be overlooked, according to Gena Heidary, MD, PhD.

    When evaluating patients with pediatric neurodegenerative diseases, a common classification scheme stratifies the diseases by the areas within the brain which are predominantly affected—i.e., diseases of the gray matter, such as neuronal ceroid lipofuscinosis, or of the white matter, such as Pelizaeus–Merzbacher disease, or diseases that overlap, she said.

    These diseases can be difficult to diagnose and therefore clinicians need to be aware of the ophthalmic manifestations of these diseases to aid in diagnosis, said Dr. Heidary, assistant professor of ophthalmology, Harvard Medical School, Boston.

    Children with neurodegenerative diseases might experience afferent findings of vision and visual field loss, retinal degeneration, and optic atrophy, and efferent findings of strabismus, nystagmus, and sensorimotor dysfunction, she noted.

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