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August 1957

Riley-Day Syndrome (Familial Dysautonomia)Concerning the Etiology of the Corneal Pathology; An Ocular Survey of Nineteen Cases

AMA Arch Ophthalmol. 1957;58(2):188-192. doi:10.1001/archopht.1957.00940010200005

It is the purpose of this communication to discuss the possible causes and treatments of the ocular manifestations of the Riley-Day syndrome. Children who have this disease invariably cry without tears and almost always have corneal hypesthesia or anesthesia, and some of them sleep with their eyes partially open, especially when they are acutely ill. Moreover, they are often subject to bouts of very high fever, vomiting, diarrhea, bronchopneumonia, profuse salivation, and sweating. Hereafter, for the purpose of convenience, these symptoms will be referred to as "dehydration symptoms." Furthermore, their food intake is often subnormal, and therefore they may well be candidates for vitamin and nutritional deficiencies.

In a recent paper. I1 reported three cases representing three different types or degrees of corneal involvement in the Riley-Day syndrome.* The first case was that of severe ulceration and extensive opacification of the cornea, similar to the cases previously described by

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