This Article  • References  • Full text PDF  • Reply to article  • Send to a friend  • Save in My Folder  • Save to citation manager  • Permissions  Citing Articles  • Citation map  • Citing articles on HighWire  • Citing articles on Web of Science (43)  • Contact me when this article is cited  Related Content  • Similar articles in this journal  Social Bookmarking   What's this?

J. LAWTON SMITH, M.D.; DAVID G. COGAN, M.D.

AMA Arch Ophthalmol. 1959;62(3):364-369.

	Since this article does not have an abstract, we have provided the first 150 words of the full text PDF and any section headings.

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 . . . [Full Text PDF of this Article]

Author Affiliations
Boston

From the Howe Laboratory of Ophthalmology, Harvard University Medical School, and Massachusetts Eye and Ear Infirmary.

Footnotes
Submitted for publication Jan. 7, 1959.

This work supported in part by special traineeship BT 357, National Institute of Neurological Diseases and Blindness, National Institutes of Health, U. S. Public Health Service.

CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    Twitter     What's this?