Animal Health Trust Eye Disorders Study

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Permission to post information granted by Dr. Cathryn Mellersh

The Genetics of Inherited Eye Conditions

Genetic Breakthrough: During 2005 scientists at the Animal Health Trust identified the genetic mutations responsible for Hereditary Cataract (HC) in the Staffordshire Bull Terrier and juvenile cataract in the Boston Terrier and have developed DNA diagnostic tests that are now available to distinguish, carrier, clear, and affected dogs.

New Research: Funded by the Kennel Club Charitable Trust the same team of researchers are now starting an exciting new project to study the genetics of Hereditary Cataract (HC) and Progressive Retinal Atrophy (PRA) in the Golden Retriever, the American Cocker Spaniel, and the Tibetan Spaniel.

Over the next three years we aim to identify the genetic mutations that are responsible for HC in the Golden Retriever and the American Cocker Spaniel and for PRA in the Golden Retriever and the Tibetan Spaniel. We will develop DNA diagnostic tests that breeders can use to eliminate these debilitating diseases from their breeds.

Additional Breeds To Be Studied: In addition to the 3 breeds listed above, we will investigate the genetics of HC and PRA in any breed for which we collect sufficient DNA samples. The success of this research will largely depend on the successful collection of DNA from dogs that can usefully contribute to our research. All research is carried out in the strictest confidence and we do not share genetic information about any dog with anybody except that dog’s owner.

Can Your Dog Help the AHT Conquer Inherited Eye Disease in the Dog?

Below are some questions that will help you determine whether your dog can help the AHT identify the genetic cause of HC or PRA in your breed and develop a DNA diagnostic test to help eliminate the disease:

Q: Which dogs can contribute to the AHT research?

A: There are 2 types of dogs that are useful to our research;

1. any dog of any breed that has been diagnosed as AFFECTED with either HC or PRA by a BSAVA Eye Panelist (in the USA an ACVO board certified veterinary ophthalmologist.

2. CLOSE RELATIVES OF AFFECTED DOGS. By close relatives we mean parents,

siblings, and grandparents.

Q: If my dog is either (1) or (2) listed above, how can I contribute to the AHT’s research?

A: We need a sample of your dog’s DNA. The DNA can be collected from a small blood sample collected by your vet at any time when your dog is having blood drawn for any other purpose, or as a buccal (cheek) swab that you can collect yourself.

Q: Is there anything you need to know about my dog?

A: Yes. We need a copy of your dog’s pedigree and also a copy of your dog’s latest BSAVA eye testing certificate (in the USA a copy of the latest Canine Eye Registration Certification form) to confirm whether or not your dog is affected with HC or PRA. We need BOTH these pieces of information for your dog’s DNA to be useful to us.

Q: My dog can help your research – what do I do next?

A: Pick up a DNA sampling pack from the AHT Crufts stand which is located in Hall 5 (stand No. 16)

The pack contains; *2 buccal swabs *Instructions for the successful collection of DNA

*A sample submission form for you to sign confirming the AHT can use your dog’s DNA for genetic research. This form also contains instructions for your vet if you choose to submit DNA as a blood sample and information about where to send the swabs/blood, pedigree, and eye examinations.

For more information about this exciting genetic research at the AHT and how you and your dog can contribute to the project’s success, contact:

Dr. Mark Vaudin Dr. Cathryn Mellersh To request a DNA sampling pack:

(Head of Genetics) (Canine Genetics Specialist) Vikki Lett

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