We need your help to develop a dna test for cataract in the miniature schnauzer
By Hilde Haakensen, BånnGass Miniature Schnauzers

What is cataract?

The word 'cataract' is derived from the greek word 'katauraktos' which means waterfall.Catarakt is defined as any spot or mark on the lense, regardless of cause.

The lense is normally a dehydrated structure, mainly consisting of proteines. The pattern in the proteine structure makes the lense clear and see-through. Elevated moisture-intake in the lense causes the lense fibers to swell and destruction of proteines. If changes in the lense is caused by moisture intake or other damaging factors, the light falling through the lense will spread out and the lense become unclear.

We need your help to develop a dna test for cataract in the miniature schnauze
The Joint Miniature Schnauzer Eye Fund (JMSEF) is a group formed by several miniature schnauzer clubs in the UK. Together they have collected £30.000 for cataract research with the The Animal Health Trust (AHT). AHT recently identified a mutation that causes hereditary cataract in the Staffordshire Bull Terrier, and juvenile catarakt in Boston Terrier. They have developed a dna test that distiguishes between carrier, clear and affected dog.

Thanks to the JMSEF AHT has funds available to start research on cataracts in the miniature schnauzer. But to get started we need dna from miniature schnauzers with hereditary cataract or PRA, and their close relatives.

You can help if you have a miniature schnauzer that:
1. has been diagnosed with hereditary cataract or PRA
2. is closely related to a dog diagnosed with hereditary cataract of PRA (parents, offsprings, or littermates). Ideally we request dna from 4 close relatives from each affected miniature schnauzer.

AHT needs dna samples preferrably as a cheekswab, but blood samples are also accepted (in the case of bloodsample please preserve 5ml blood in an EDTA tube). Together with the dna sample you need to send a copy of your dog's 5 generation pedigree, a copy of the lates eye examination certificate, and fill out the ‘Sample Submission for Genetic Research’- form (may take some time to download, please be patient). Without this documentation the dna test is useless. All information is kept strictly confidential.

In total we need dna from 15-20 affected dogs, with additional relatives. The dna test for Boston Terrier took only 6 weeks to develop after the dna had been gathered, so if we can collect the dna needed this doesn't have to take that long!

As of February 2007 we have dna from 35 miniature schnauzers in total:

United Kingdom 19
Finland 8
Tsjekkia 3
Norway 2
Germany 2
Denmark 1

10 are from affected miniature schnauzers
23 are from relatives of affected miniature schnauzers

23 of the samples has arrived within the last 10 weeks, so spreading this information is obviously working.

Why should you help?
If we can develop a dna test for hereditary cataract in the miniature schnauzer, we can start the process of eliminating hereditary cataract from our breed. One simplel test will be able to determine if a puppy one day will develop hereditary cataract later on in life. Louie’s case illustrated the problem with hereditary cararact perfectly and todays system with checking eyes: even if his eyes where checked yearly from the age of 8 weeks old, the cataract didn't develop until he was 7 years of age. At this point he had already been used for stud on several occations. If we can develop the dna test for miniature schnauzer, this means that everyone with a known carrier in close family can send in dna from the dog and find out if it is a carrier or not. By systematically excluding the carriers from the gene-pool, we can gradually get rid of the hereditary cataract in our breed.

Help out and find out what your miniature schnauzer's status is!

Once the test is developed, the owner of the dogs that participated with dna have the oportunity to get their dog's status by paying a £5 administration fee. Just remember to write your email adress on the form you send in with the dna.

How can you help?
If you have a miniature schnauzer diagnozed with hereditary cataract or PRA, or a mother, father, littermate, or offspring of an affected dog, you can request a swab kit and have it sent to you free of charge. Please contact Hilde Haakensen at e-mail; hilde@hildehund.com.

Click here for detailed step-by-step description on how to participate

The dna cheek-swab-test is easily taken by rubbing a small brush on the inside of your dog's cheek. You can do it at home without the help of a veterinarian. Mark the swab and send it together with a copy of the pedigree, copy of your dogs latest eye examination certificate, and completed form: ‘Sample Submission for Genetic Research’.
Click here to download the sample submission form .

This is your chance to help the breed we all love so much !

We encourage everyone to contribute to make this important research succeed. Dna from all miniature schnauzers diagnosed with hereditary cataract or PRA is wanted. Remeber that the faster we submit enough dna, the faster a test will be available! What kind of test that is developed is dependant upon what kind of dna the AHT receives.

Any questions or comments regarding this article can be emailed to hilde@hildehund.com. If you want to participate but have questions, please contact me! I can help you generate a pedigree for your dog, and send you the free cheek-swab kit.

Hilde Haakensen
BånnGass Miniature Schnauzers