Thursday, July 10th at 19:00 was a special day. I spoke at the “JSK bjuder in till ett möte om ögonsjukdomen PRA” event. This event was hosted by the Japansk Spetsklubb (JSK). This is the national Japanese Spitz club of Sweden. Special thanks to Mikaela Sandbacka and Carina Lundgren for inviting me.
A total of 47 participants from around the world expressed interest. Not everyone could join the live meeting. I’m sharing the key points from my presentation here. You will also find links to translated versions.
About the Event “JSK bjuder in till ett möte om ögonsjukdomen PRA”.
This meeting was open to both club members and non-members who care about the future of the breed. The goal was to come together and share information. We aimed to build awareness around PRA. Progressive Retinal Atrophy (PRA) is a disease that causes blindness in dogs. I was invited to speak as a guest breeder from Slovenia. Part of the meeting was held in English, followed by discussion in Swedish.
Slide: A carrier is not a danger—lack of knowledge is
If you don’t know me yet: I run a small Japanese Spitz kennel. My passion is exploring everything about this breed—from old memories and photos to modern genetic research. That journey led me to start the Japanese Spitz Foundation project. The idea is to put together the full picture—past, current, and future—by working across borders and sharing what we know.
Now—I’ll be honest. Today I have not an easy topic. It took me months to accept that PRA exists in our breed. It took me even longer to feel ready to face it head-on.
But I don’t want this talk to feel heavy. Because we’re not here to grieve over this problem
We’re here because we have a solution. And this conversation is really about that.
And I want to share what I’ve learned — so others don’t have to start from scratch like I did.
“A carrier is not a danger. Lack of knowledge is.”
Slide: What Exactly Are We Dealing With?
For many years, PRA felt distant in our breed. Maybe a case here or there. Nobody worried when an old dog showed caution in the dark. We thought, “Oh, that dog is just old” .
But looking back, I now realized, that some of those dogs may have had undiagnosed PRA.
PRA — Progressive Retinal Atrophy — is not one disease. It is a group of inherited conditions. These conditions slowly destroy the retina. The retina is the part of the eye that turns light into vision.
In PRA, both rod and cone cells gradually break down. It starts with trouble seeing in the dark—night blindness—and eventually progresses to total vision loss.
Long story – short by series of experiments I found out that we have a deal with PRA‑rcd4 mutation.
- It’s late-onset — symptoms often appear after 10 years of age
- First signs usually include trouble seeing in the dark.
- Progressive Vision Loss: The disease gradually progresses, leading to loss of peripheral vision and eventually total blindness.
- And it’s autosomal recessive—meaning both parents must carry the wrong gene for a puppy to be affected.
There’s no cure. Not for the form we’re dealing with. When my own dog was diagnosed, it was heartbreaking. I realized the only real way is prevention, which lit a fire in me.
At first, I asked myself: could eye screening be helpful?
And maybe—for early-onset types, it would but in this case we have a deal with late-onset form PRA. Recent example of a 7-year-old lovely japanese spitz genetically affected by PRA‑rcd4 showed no signs during eye screening.
Look at the picture – this is what the ophthalmologist mostly rely on to make a verdict – not easy job to distinguish normal state from early PRA
This also explains why the dogs we know of were diagnosed only by chance—and at a senior age. Only DNA tests for this mutation can guide us.
That into account age when it started to show early symptoms and it make us accept while eye exams are valuable, but they can’t give us the hint soon enough to guide safe breeding
Slide: Understanding Autosomal Recessive Conditions
Let’s take a quick step back and look at how inheritance works. I skip most of genetic and inheritance theory and just highlight essential for us
what is an autosomal recessive inheritance?
This is when a dog needs to inherit two copies of a mutated gene. It must get one from each parent to be affected by the disease.
There are three possible outcomes:
- If the dog gets two normal alleles, it’s Clear—not affected, not a carrier.
- If the dog gets one normal and one mutated allele, it’s a Carrier—healthy, but can pass the mutation on.
- If the dog gets two mutated alleles, it’s Affected—the disease will develop.
The key point: Carriers don’t get sick. But, when two carriers are bred, there’s a 25% chance their puppies will be affected. That’s why knowing the status matters so much.
In summary, at this stage I had a test that worked for all cases I test. I still need to decide whether it reliably applies to other dogs as well. So I continue and describe what was done
Slide: Study Design
Let me walk you quickly through how my study effort was structured. I started with a group of 15 Japanese Spitz, ranging in age from 2 to 14 years.
First, all dogs were examined blind—meaning the examiner didn’t know anything about their background. There were two different ECVO certified ophthalmologists.
Then, I collected buccal swabs from each dog and sent them to the Genetic lab in Slovenia (EVG ). They were tested specifically for the PRA‑rcd4 mutation.
To add reliability, I didn’t stop there. I randomly selected clear, carrier, and affected dogs. The test was repeated in other independent labs to confirm the results.
Finally, for the 10 dogs, including those diagnosed with PRA through eye exams, I also ordered Next Generation Sequencing. This method is a broader genetic screen targeting 17 known PRA mutations.
This was done to make sure we weren’t missing another possible cause.
So overall, this study merged clinical diagnosis with modern DNA testing and cross-lab validation to build a more thorough picture.
Slide: What Study Has Already Shown Us
So, what have we actually learned so far?
First—and this is crucial—reliable DNA testing for the PRA mutation is available for our breed – PRA‑rcd4 test.
- It can be done at any age, and through several trusted labs across Europe and World.
- It’s simple, and often just a cheek swab. I did it for 3 weeks as a puppy.
In our study, carriers were found in multiple bloodlines. This tells us the mutation isn’t isolated to just one line or family. The next step is to figure out how much it spread across the breed population.
Let’s talk about what this means for breeding:
A Carrier × Clear pairing is completely safe. None of the puppies will be affected—some might be carriers, but they’ll live normal lives.
Even an Affected × Clear pairing, while not ideal, doesn’t produce affected puppies. All will be carriers.
The risky combinations are: Carrier × Carrier: on average, 25% of the litter could be affected & 50% Carriers & 25% Clear
Combinations do not have sense: Affected × Carrier expected 50% Affected and 50% Carriers. Affected × Affected expected 100% of the puppies will inherit the disease.
The good news? DNA testing provides us with a tool. It ensures we don’t ever create affected puppies. We can achieve this without removing carriers from the gene pool.
You can test a puppy early, even before deciding on breeding plans.
And with that one simple test, you’re already several steps ahead in protecting the future of the breed.
Slide: Why This Moment Matters
Right now, we’re at a very important moment. We have a chance to get ahead of a disease that’s silent for years. It often only shows itself after the damage is done.
But with DNA testing, we don’t have to wait for that. We don’t have to guess. It takes one cheek swab. And just one honest conversation— with yourself—to start making better choices.
Let’s be clear: A carrier dog is not a problem. A blind puppy is.
Testing doesn’t mean cutting lines or excluding dogs—it means protecting what we love without losing it.
“We finally have a flashlight in a dark room. Now we can see where we’re going.”
Closing Thoughts
Based on the results we’ve seen, we still have plenty of clear dogs in the breed. We’re not too late. We’re not out of options. We can continue breeding healthy, joyful Japanese Spitz puppies— if we test smart and breed thoughtfully.
But I left everyone with this:
“Every clear test we record helps preserve a lifetime of in eyes of our dog.”
Thank you again for being there, listening, and caring.
This is only the beginning — and I’m truly hopeful for what we can do together.
— Julia
