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OptiGen - New Retinal Folds / Occulo Skeletal Dysplasia DNA test

4K views 11 replies 7 participants last post by  WRL  
#1 ·
It may soon be possible to have a non-clear CERF exam based on Retina Folds being present reversed in Labrador retrievers. OptiGen has begun offering a new DNA test for inherited OSD (dwarfism) in Labrador Retrievers. Currently any puppy/dog that has retinal folds present is automatically presented with a non-clear CERF test result.

This is due to the fact that in Labrador Retrievers (& Samoyeds) these retinal folds are often detected in the presence of the OSD gene. OSD (dwarfism) Afflicted dogs have retinal folds that most often result in blindness of the dog.

There is a catch, early puppyhood in the 7-8 weeks of age range given CERF exams, will not detect carriers of the OSD gene based on no retinal folds present. And the same CERF exam may find retinal folds present which currently result in a non clear CERF status test result. Sometimes as the eye grows, after the 7-8 week age range, these puppy folds may flatten out and the dog may actually pass a CERF exam at 24 months of age AND be a "silent carrier" for OSD.

OptiGen is working with ACVO, CERF and other eye registries to lobby for a non-clear CERF exam to be re-classified as CERF clear status if your dog only has retinal folds and is OSD DNA tested clear. In other words retinal folds currently places your dog in non-clear CERF breeding status which equals NO breeding based on the assumption that in Labradors the condition is concurrent with OSD Carrier or Affected status.

So OptiGen is now able to determine the presence of OSD in Labrador Retrievers. And if your dog only shows signs of retinal folds, the OSD test resulting in Clear, may soon be accepted as a basis for granting a CERF clear status.

More data available @

http://www.optigen.com/opt9_rdosd.html
and
http://www.labradornet.com/dwarfism.html

Yet another issue for the ethical breeder of Labrador Retrievers to become knowledgeable about.
 
#2 ·
This has been out for over a year now and yes, some dogs that have retinal folds have been able to get a CERF # because of the test, so it is another good tool.
 
#5 ·
My Rudy has OSD and is a regular lovable labby, who happens to be blind and and have some messy joints. I think the term Dwarf although totally correct is a bit misleading. Rudy is a big old boy, about 70lbs of lean muscle.

I do hope that your baby grows up normal!! My guess, if I am reading the above articles correctly, is that is your pup doesn't have the vision problems (Rudy couldn't see from day one, though he did do a great job fooling us into thinking he could for a few weeks) then he will probably be fine!
 
#6 ·
Per Optigen:

"CERF Certification for Labradors or Samoyeds with Retinal Folds: The breeding advice for Labrador Retrievers and Samoyeds diagnosed with "retinal dysplasia - folds" will be changed from "No" to "Breeder option" if the owner of the dog provides the CERF office with results of the DNA test for the affected dog, showing that it is not a carrier of the oculoskeletal dysplasia (OSD) mutation."
 
#8 ·
However Kim, that specifically is for multi-focal folds NOT geographic folds. Better than 75% of folds found in Labradors are geographic folds.Some folks are under the impression that there are only ONE TYPE of folds or retinal dysplasia.

This is from the Optigen site also: Suggestions for Implementation of the RD/OSD Test: If a Labrador retriever or Samoyed is identified with Focal or Multi-focal retinal dysplasia (retinal folds) during an eye examination by an ACVO diplomate, currently the dog is not eligible for certification within the CERF registry. In this case, the OptiGen DNA test will determine if the folds are caused by the mutation responsible for OSD. A NORMAL OSD result will indicate that the retinal folds are not caused by the OSD mutation and represent the frequent benign Focal/Multi-focal retinal folds found in these and other breeds. If the presence of Focal or Multi-focal retinal dysplasia (retinal folds) is not associated with the RD/OSD mutation, then the dog is considered free of a major inherited eye disease. Please note that these comments refer only to Focal/Multi-focal reitnal dysplasia (retinal folds). Geographic retinal dysplasia may represent a different, possibly inherited, disease.

WRL
 
#11 · (Edited)
Per the AVCO vets I use, geographic folds are permanent and distinct and dogs won't get a CERF number regardless, they can also cause areas of blindness in the dog if large enough. For non-geographic folds, lots of which cause no apparent vision problems, the Optigen test will determine if those folds are linked to dwarfism (OSD) or not and if not, the dog can get a CERF number. Lots of folds disappear after pup grows, so for those who don't have a pup CERF for some reason, they can test and rule out that particular genetic issue if they want. There are also OSD carriers that don't have folds either. Lots of gray areas in folds, no doubt, and not all AVCO vets agree even looking at the same dog, it isn't an easy, black & white topic, that's for sure. http://www.optigen.com/opt9_rdosd.html
 
#12 ·
That's correct. This is a test for ONE type of folds/disorder. Unfortunately, they don't have a DNA test for other types of hereditary retinal dysplasia or folds but this test is at least a start. I believe they are doing research to find tests for the other types of Retinal Dysplasia and Folds. It was mentioned to me that they believe there are at least two other types of hereditary retinal dysplasia, one being autosomal recessive and the other being dominant with incomplete penetrance (which means you can have genetically affected offspring with no clinical signs.). Neither of those forms are associated with skeletal deformities. It will be nice if those tests come out.

And as Susan said, a dwarf is going to have skeletal abnormalities not just be "small". Most of them have a "bulldogish" look to them. But some of the skeletal abnormalities might seem "slight" to the eye and may need x-rays to confirm.

WRL