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FFB-funded researchers from the University of Pennsylvania, along with investigators from Cornell University, have discovered that dogs with mutations in their rhodopsin gene experienced retinal damage when they were exposed to moderate amounts of light.
The rhodopsin mutations in dogs mimic the same mutations in humans with the dominant form of retinitis pigmentosa caused by rhodopsin mutations.
Therefore, investigators recommend that people with the dominant form of RP caused by a mutation in their rhodopsin gene limit their light exposure.
The effect of moderate light exposure was not investigated for any other form of RP.
"This is a major FFB-funded breakthrough in preserving vision for a subset of people with RP," says Stephen Rose, Ph.D., FFB's chief researcher officer. "It is important for people with dominant RP caused by the rhodopsin mutation to talk with their ophthalmologist about minimizing their light exposure."
For people who have never been genetically tested, it is an excellent reason to do so. "Genetic testing, and determining the form of RP, enables patients to respond immediately to these critical findings," says Rose. "In this case, people with the rhodopsin mutation can take vision-preserving action right away."
Investigators recommend that physicians who conduct retinal examinations of patients with rhodopsin mutations do so as quickly as possible, and with as little light as possible. They also recommend that retinal photography be avoided, and light exposure during intraocular surgery minimized.
This is published in the Proceedings of the National Academy of Science and acknowledges FFB support.
If you have any questions, please do not hesitate to ask. Here are the links to the University of Iowa and University of Michigan genotyping centers:
Univ. of Iowa, College of Medicine, Carver Lab
The Carver Laboratory for Molecular Diagnosis is dedicated to providing non-profit genetic testing for rare eye diseases to meet a societal need. www.carverlab.org/index.html
University of Michigan Kellogg Eye Center--Molecular Diagnostic Testing for Inherited Eye Disease
The UM Kellogg Eye Center is proud to announce a state-of-the-art testing service: the Ophthalmic Molecular Diagnostic Laboratory. It will allow ophthalmologists to confirm diagnoses and help patients understand their risks for certain inherited eye diseases. Kellogg is unique in its ability to offer this genetic testing service, which also provides patients with an exceptional genetic counseling program. www.kellogg.umich.edu/patient/eyegenetest.html
The work described in this article was made possible through generous gifts from people like you. Please click here to make a donation to the Foundation.
DISCLAIMER: Physicians differ in their approach to incorporating research results into their clinical practice. You should always consult with and be guided by your Physician’s advice when considering treatment based on research results.
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