DEVELOPMENTALLY, the retina is a derivative of the central nervous system. From approximately the fifth week of gestation, differentiation of the retinal primordium proceeds through the stages which make it a specialized organ of visual perception. However, certain elements of the retina retain their strictly neural characteristics, and the existence of hereditary disorders involving both the retina and the brain have been noted frequently.
It is not our intention to dwell here on the relatively well-known diseases in which impairment of vision is associated with neurological disorders such as hereditary ataxias, cerebral lipidosis, diffuse sclerosis, or the mucopolysaccharoidoses. We wish to bring to the attention of neurologists in particular a less familiar syndrome of congenital amaurosis of retinal origin which is associated with neurological manifestations in a proportion of patients.
This type of congenital amaurosis is still a poorly defined syndrome1-3 and one in which further
DEKABAN A, CARR R. Congenital Amaurosis of Retinal Origin: Frequent Association With Neurological Disorders. Arch Neurol. 1966;14(3):294–301. doi:10.1001/archneur.1966.00470090066009
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