Ataxia-telangiectasia is a familial disorder characterized primarily by a progressive cerebellar ataxia with onset in infancy, associated with conjunctival telangiectasia and unusual ocular movements. An isolated case was first reported in 1941, by Louis-Bar,1 but the syndrome has been defined only in the past two years. The reports of Boder and Sedgwick,2 Centerwall and Miller,3 and Wells and Shy,4 all since 1957, have established it as a clinical entity, and to date a total of 20 cases in 12 families, involving 12 females, 8 males, and 7 pairs of siblings are known. Among the known cases are four which have not been reported individually, and it is one of these called to our attention by Dr. Frank Ford that led to our awareness of the syndrome. As ataxia-telangiectasia has striking ocular manifestations and has not heretofore been reported in the ophthalmologic literature, the following case is
SMITH JL, COGAN DG. Ataxia-Telangiectasia. AMA Arch Ophthalmol. 1959;62(3):364–369. doi:10.1001/archopht.1959.04220030020004
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