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Article
April 1949

TUBEROUS SCLEROSIS IN THREE SIBLINGS

Author Affiliations

ST. LOUIS
From the Department of Ophthalmology, Washington University School of Medicine, and the Oscar Johnson Institute.

Arch Ophthalmol. 1949;41(4):473-480. doi:10.1001/archopht.1949.00900040483010
Abstract

T UBEROUS sclerosis (Bourneville's disease) is a familial heredodegenerative disease characterized by tumors in the brain, retina and skin, and sometimes other organs. There are convulsive seizures beginning in early childhood, tumors of the retina or disk,1 adenoma sebaceum of the butterfly area of the face and radiopaque lesions in the brain. Lesions of all three areas (brain, retina and skin) must exist for the diagnosis of tuberous sclerosis in an isolated case, but a single lesion may be found in siblings of persons known to have the disease.

Tuberous sclerosis is described chiefly in the neurologic literature. Ocular lesions are said to occur infrequently.2 Study of the patients in the present series suggests that the smaller retinal lesions in tuberous sclerosis are so inconspicuous as to be easily missed, even when they are specifically sought. Although about 150 cases have been described in the literature, neurologists say

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