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Article
December 1968

Ophthalmologic Studies of Familial DysautonomiaThe Riley-Day Syndrome

Author Affiliations

Baltimore
From the Wilmer Ophthalmological Institute, Johns Hopkins Hospital and University, and the Division of Medical Genetics, Johns Hopkins Hospital, Baltimore.

Arch Ophthalmol. 1968;80(6):732-743. doi:10.1001/archopht.1968.00980050734011
Abstract

Familial dysautonomia is easily recognized by its unique combination of ocular findings. These include corneal hypesthesia, hypolacrima, exodeviations, methacholine-induced miosis, myopia, anisometropia, and tortuosity of retinal vasculature. Anisocoria and ptosis are also observed in this syndrome. Diagnostic confirmation can be obtained by noting the absence of fungiform papillae on the tongue and by observing an abnormal reaction to histamine injected into the skin. Evidence suggests that denervation supersensitivity exists in dysautonomic ocular structures, both to sympathetic and to parasympathetic stimuli. Prevention of corneal ulceration and perforation in affected patients requires early diagnosis and therapy, including the use of artificial tears, punctum occlusion, tarsorrhaphy, and occasionally corneal or conjunctival surgery.

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