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Tuberous Sclerosis

H. Paul Johnson, M.D.
JAMA. 1961;176(12):1052. doi:10.1001/jama.1961.03040250078025.
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To the Editor:—  The failure to mention eye findings in Bourneville's disease in the otherwise excellent article by Duvoisin and Vinson in The Journal (175:869, 1961) indicates that this is both infrequently present and insignificant in the diagnosis of this disease.While it is true that Earl (1932) observed only one case with eye manifestations in 29 cases, Van der Hoeve (1920-1932) was able to collect 26 cases, indicating that eye complications would be much more frequently found if they were looked for.The more or less typical raw-potato—like appearance of these spherical bodies in the vitreous is such that ophthalmoscopic diagnosis is possible. The 3 phakomytoses are easily distinguishable from each other; the only condition giving much differential diagnostic difficulty is hyaloid degeneration of the disc, which, of course, has no systemic manifestations. Since Von Hippel-Lindau's disease is vascular, it is easily ruled out.


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