Volpino Italiano

"Geneticists identify a mutation for Primary Lens Luxation (PLL) in several breeds.
(September 2009)

A mutation responsible for the development of primary lens luxation in many breeds of dogs has been identified by geneticists working in the Kennel Club Genetics Centre at the Animal Health Trust, led by Dr Cathryn Mellersh, in collaboration with Dr David Sargan (Cambridge University) and Dr David Gould (Davies Veterinary Specialists).

Primary Lens Luxation (PLL) is a well-recognised, painful and blinding inherited eye condition that affects many breeds of dog. In affected dogs the zonular fibres that support the lens breakdown or disintegrate, causing the lens to fall into the wrong position within the eye. If the lens falls into the anterior chamber of the eye glaucoma and loss of vision can quickly result.

The team of scientists have identified a mutation that is responsible for the development of PLL in several breeds, including the Miniature Bull Terrier, the Lancashire Heeler, Tibetan Terrier, the Jack Russell Terrier, the Parson Russell Terrier, the Patterdale Terrier, the Sealyham Terrier and the Chinese Crested dog.
A DNA test will be available from Monday 19th October, 2009.

PLEASE NOTE – We have limited resources and regret that we are are unable to consider any requests for this test before October 19th, without exception, and cannot issue any testing kits before that date. Testing kits can be requested by e-mail on or after October 19th to swab.request@aht.org.uk. If you do not have access to email please telephone 01638 555621 or fax 01638 555666.

The DNA test can be used to determine a dog’s genotype with respect to this mutation. Dogs will be identified as CLEAR (has two normal copies of the gene), CARRIER (has one normal copy and one mutated copy) and AFFECTED (has two copies of the mutation). Breeders will be given an estimate of each dog’s risk of developing PLL depending on their genotype and will be able to make sensible breeding decisions that minimise the risk of producing dogs that will become affected by this serious and debilitating condition.

Breeders and owners will be able to test their dogs using a simple test kit that will be available from October 19th, 2009. It will be possible to collect DNA from dogs to be tested via a simple cheek swab which will be included in the test kit, along with all information, necessary forms and full instructions. Please check our web-site nearer the date for confirmation of price.

Owners who submitted samples for the PLL research prior to September 1, 2009 may request test results using a form that will become available on this website on October 19th, 2009.

We would like to sincerely thank all the many owners and breeders, from all over the world, who have contributed DNA and information from their dogs to this project. This discovery would not have been possible without them. We would also like to thank everybody who has made a financial donation to support the research."

Oxford Journals - Journal of Heredity

PLL DNA test (OFA - Orthopedic Foundation of Animals)

(team led by DVM PhD Gary Johnson (University of Missouri)

 http://www.caninegeneticdiseases.net/GLX/mainGLX.htm

A mutation responsible for the development of lens luxation in many breeds of dogs has been identified by a team of researchers led by Gary Johnson DVM PhD at the University of Missouri College of Veterinary Medicine. A DNA test for this mutation is expected to be available by late September 2009 through a partnership with OFA (Orthopedic Foundation for Animals).

Lens Luxation is an eye problem well known in many Terrier breeds, Chinese Cresteds , Australian Cattle Dogs, Tibetan Terriers, and other breeds. The lens is held in place in the eye by fibers known as zonules. If these zonules break or disintegrate, the lens can fall out of place, or luxate. When this happens it often requires immediate veterinary attention to remove the displaced lens. Lens luxation can cause secondary glaucoma, which also leads to pain, loss of vision, and sometimes loss of the entire eye.

Research at the University of Missouri has led to identification of a DNA mutation that predicts which dogs are at risk for developing lens luxation as they age. A simple DNA test will reveal if a dog is NORMAL (has 2 normal copies of the gene), a CARRIER (has one normal copy and one mutated copy of the gene) who will not develop lens luxation but could pass the mutation on to offspring, or AFFECTED/AT RISK (has 2 mutated copies of the gene). Wise use of this test gives breeders a tool to avoid producing individuals at risk of developing lens luxation, while still retaining many other desirable traits in their dogs.

Breeders and individual owners will be able to test their dogs using the testing kit that can be ordered online through the OFA website (www.OFFA.org). DNA is collected using a cheek swab, and the barcoded sample will be tested by the Animal Molecular Genetics Lab at the University of Missouri, with results reported directly to the owner by OFA. PLEASE NOTE: this test is not yet online at OFA, but should be available by the end of September 2009. This website will be updated with an announcement as soon as the test is online at OFA.

Owners who had submitted samples for research prior to Sept 1, 2009 may request test results for their dogs using this Test Request Form for existing samples – click here for this form. These requests will be accepted now.

Owners of dogs that have been diagnosed as affected with lens luxation by an ACVO or ECVO boarded ophthalmologist are eligible to receive a free DNA test if they send a blood sample, pedigree copy, and a copy of the ophthalmologist's report – click here for the instructions and form to submit samples from affected dogs. Samples from affected dogs may be sent now as well.

Testing for all other dogs will be available through OFA shortly – we will update this announcement as soon as it is online at the OFA website.

Our thanks to the clubs and many individual owners who have supported this research and participated in the project by supplying samples and information on their dogs, as well as monetary support. We also greatly appreciate support from the Jack Russell Terrier Club of America, and past support from the Canine Health Foundation for the early stages of this research. Please watch this space for updates in the next few weeks. If you have questions, you may contact Project Coordinator Liz Hansen at HansenL@missouri.edu.

OFA Website: http://www.offa.org/dnatesting/

PLL – Primary Lens Luxation - test available for the following breeds (65$): 
Australian Cattle Dog

Bedlington Terrier,

Chinese Crested,

For more information on PLL, please visit the University of Missouri website
http://www.caninegeneticdiseases.net/GLX/mainGLX.htm

Owners who had submitted samples for research prior to Sept 1, 2009 may request test results for their dogs using the following form from the University of Missouri:
http://www.caninegeneticdiseases.net/GLX/PLLt-rq.pdf

Statystyki OFA: http://www.offa.org/dnateststats.html

Links:

http://www.minibullies-sa.net/pllinminibullies.pdf

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