Electrodiagnosis in Neurodegenerative Diseases of Childhood

The accurate diagnosis of visual system involvement in neurological diseases of childhood begins with a detailed history of the infant and his family and a physical examination tailored to the age of the child. With the successful completion of this clinical evaluation, many times the nature of visual system involvement will be clear; however, there are pitfalls In the ophthalmological evaluation of an infant or a young child that can be misleading. The optic disc is relatively pale in young children, and this may lead to the erroneous diagnosis of optic atrophy. Alternatively, true optic atrophy may be missed because the disc appears to be within normal limits. The fundus and macula may be less pigmented than normal, or the pigmentation may be mottled in the infant, giving the appearance of a retinal pigmentary abnormality when none exists. On the other hand, infants with Leber amaurosis or cerebral blindness may exhibit no abnormality on eye examination.