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June 20, 2011:† TWO NEW TESTS FOR THE AUSTRALIAN SHEPHERDS

CANINE MULTIFOCAL RETINOPATHY (CMR)

In the Spring of 2011, veterinary eye specialist, Dr. I. Hoffman, was surprised to observe multifocal retinal lesions during a routine eye exam on a 13 month old Australian Shepherd. Dr. Hoffman recognized the similarity of these lesions to those known to occur in other breeds affected with Canine Multifocal Retinopathy and he contacted OptiGen about the case. Through OptiGenís Research/Free DNA testing program, the CMR mutation responsible for the disease in this pedigreed Australian Shepherd has been identified; details of this finding will soon be more thoroughly described in a scientific paper.

DNA testing for CMR is now available for the Australian Shepherd at OptiGen.† When placing orders for this test, please be sure to include information on any ophthalmologic findings that have been noted for your Australian Shepherd. We are interested to learn if there is any correlation between the CMR mutation and the presence of Retinal Folds and receiving complete information in the Eye History portion of the Test order form will aid that analysis.† As described on OptiGenís CMR webpage, the clinical symptoms associated with CMR vary from mild to severe and it has been hypothesized that some retinal folds may be due to this CMR mutation.† By gathering complete eye exam history on samples submitted for testing, we will be able to determine if this is the case.

CONE DEGENERATIONó

A similar sort of unexpected finding recently occurred when veterinary ophthalmologists, Drs. A. Komaromy and C. Yeh from the University of Pennsylvania, contacted OptiGen regarding a case of Day Blindness in a pedigreed Miniature Australian Shepherd.† Day blindness, also known as hemeralopia, is characterized by the inability to see well, if at all, in bright light but where visual function is normal in dim light conditions.† OptiGen offers DNA testing for two mutations that cause Cone Degeneration that result in Day Blindness in the Alaskan Malamute or the German Shorthaired Pointer. Through Optigenís Research program, we were able to determine the cause of Day Blindness in the case of the Miniature Australian Shepherd and this test is now available to the public. †A detailed scientific report of this case is also in preparation.

We urge any owners of any Australian Shepherds--of any sizeóthat have been diagnosed with a significant eye disease to contact OptiGen about our Free DNA testing for these cases so that we can continue to develop useful tests for this breed.


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OptiGen®, LLC · Cornell Business & Technology Park · 767 Warren Road, Suite 300 · Ithaca, New York 14850
Tel: 607 257 0301 · Fax: 607 257 0353 · email: genetest@optigen.com or optigen@clarityconnect.com
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