Disclaimer: This book was created after the 1998 Family Conference.  The articles are important to all of those involved with RTS.  This is online without permission from Dr. Rubinstein and the Cincinnatti Rubinstein-Taybi organization.  They would prefer that you call Dr. Rubinstein at  1-800-344-2462 ext. 4621 and request a copy of the book.  I would encourage everyone, especially those with a child who has RTS to call the above number and request a copy of this book.  I have been reassured by Mark Shannon that this book will be sent to anyone who requests it, regardless of country.
All the information from the book is not online (another reason to call and request the book).  Left out are articles which are copyrighted or are not appropriate for the web site (includes list of attendees).  All articles which are deemed “public domain” are included..
Diane Wardlow

Ophthalmologic (Eye and Orbital) Findings
in Rubinstein-Taybi Syndrome

Miles J. Burke, M.D.
Pediatric Ophthalmology and Adult Eye Muscle Disorders

There are no eye or orbital signs that definitively distinguishes an individual with RTS.  However, there are many facial and ocular findings that give the RTS its distinctive appearance.  The table below highlights the most common findings.  The first column is the average % of the finding in the world’s literature.  The second column is the % of those findings in the 39 RTS individuals I examined at the First RTS Conference.

The high frequency of eye findings nad potential problems makes the Ophthalmologist an essential member of the team to evaluate and care for RTS individuals.

Common Eye and Orbital Findings in RTS

**Glaucoma:  It is often necessary to perform an examination under anesthesia to confirmor exclude this diagnosis.  Since anesthesia may artificially lower an elevated intraocular pressure, the measurement must be performed as soon as possible.  All other components of the exam can be done accurately and safely under a deeper stage of anesthesia.

Replication:
This information is in the public domain unless otherwise indicated.  Readers are encouraged to copy and share it, but please credit The Proceedings for the 1998 International Family Conference on Rubinstein-Taybi Syndrome.

Funding:
UACCDD receives major support from the Hamilton County Mental Retardation Service Levy.  Additional funding sources include: United Way and Community Chest; Maternal and Child Health Bureau and the Administration on Developmental Disabilities of the Department of Health and Human Services; other county, state, and federal agencies; foundations; and individual contributions.
The 1998 International Family Conference on Rubinstein-Taybi Syndrome is very grateful for the generous support of The Special Friends Foundation.

This document was added to the Rubinstein-Taybi web site in November 2000.

If any of the information found on this website does not adhere to copyright laws it is unintentional, please contact dwardlow@uswest.net and it will be removed from the site.

http://www.rubinstein-taybi.org