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  • Contact me when this article is cited  Related Content  • Similar articles in this journal  Social Bookmarking   What's this?

The Riley-Day Syndrome

Morton F. Goldberg, MD; John W. Payne, MD; Peter W. Brunt, MD

Arch Ophthalmol. 1968;80(6):732-743.

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.

Author Affiliations
Baltimore

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

Footnotes
Submitted for publication June 7, 1968.

Read in part before the Section on Ophthalmology at the 117th annual convention of the American Medical Association, San Francisco, June 18, 1968.

Reprint requests to Public Health Service, Room 502-A, 4040 N Fairfax Dr, Arlington, Va 22203 (Dr. Goldberg).

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

THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES

Development of Tearing in Preterm and Term Neonates
Isenberg et al.
Arch Ophthalmol 1998;116:773-776.
ABSTRACT | FULL TEXT  

Neurotrophic and Anhidrotic Keratopathy Treated With Substance P and Insulinlike Growth Factor 1
Brown et al.
Arch Ophthalmol 1997;115:926-927.
ABSTRACT  

Eyelids, Lacrimal Apparatus, and Conjunctiva
Sexton
Arch Ophthalmol 1970;83:361-377.
 

Neuro-ophthalmology
Knox
Arch Ophthalmol 1970;83:103-127.