Primary Lens Luxation (PLL)

Quick Summary

Primary lens luxation is a painful inherited eye disorder where the lens of the eye moves from its normal position, causing inflammation and glaucoma. If untreated, the condition can rapidly lead to blindness.

Phenotype: Primary lens luxation appears spontaneously, typically between 3-8 years, although both eyes are not necessarily affected at the same time. Watery, red, teary eyes may indicate that lens luxation has occurred and veterinary intervention is required.

Mode of Inheritance: Autosomal recessive

Alleles: N = Normal, PLL = Primary lens luxation

Breeds appropriate for testing: Terrier breeds (many), American Eskimo Dog, Australian Cattle Dog, Chinese Crested, Chinese Foo Dog, Danish-Swedish Farmdog, Italian Greyhound, Lancashire Heeler, Volpino Italiano

Explanation of Results:

  • Dogs with N/N genotype will not have primary lens luxation and cannot transmit this variant to their offspring.
  • Dogs with N/PLL genotype are at slight risk of developing primary lens luxation and are carriers. They will transmit this variant to 50% of their offspring. Matings between two carriers are predicted to produce 25% primary lens luxation-affected puppies.
  • Dogs with PLL/PLL genotype will have or are at risk of developing primary lens luxation, a condition that can lead to blindness if untreated. They will transmit this variant to all of their offspring.

Results of this test can be submitted to the OFA (Orthopedic Foundation for Animals)

Price

$50 one test per animal
$30 as additional test (same animal)
$45 for 3 or more dogs

Additional Details

Primary Lens Luxation (PLL) is a painful inherited eye disorder where the lens of the eye moves from its normal position causing inflammation and glaucoma. PLL results from a single base change mutation in the gene ADAMST17. If untreated, the condition can rapidly lead to blindness. The disease is inherited in an autosomal recessive fashion thus both sexes are equally affected. PLL appears spontaneously, typically between 3-8 years, although both eyes are not necessarily affected at the same time. Watery, red, teary eyes may indicate that lens luxation has occurred and veterinary intervention is required. Dogs with only one copy of the disease mutation most frequently show no sign of the disease but can, on occasion, develop PLL. Breeding between two carriers is expected to produce 25% affected offspring.

Testing for PLL assists owners and breeders in identifying affected and carrier dogs. Breeders can use results from the test as a tool for selection of mating pairs to avoid producing affected dogs.

Turnaround Time
3-6 business days

Species

Dog

Type of Test

Results Reported As
Test Result Primary Lens Luxation
N/N No copies of the PLL mutation. Dog is normal.
N/PLL 1 copy of the PLL mutation. Dog is a carrier and at slight risk for developing PLL.
PLL/PLL 2 copies of the PLL mutation. Dog is affected.
References

Farias, F.H., Johnson, G.S., Taylor, J.F., Giuliano, E., Katz, M.L., Sanders, D., Schnabel, R.D., McKay, S.D., Khan, S.H., Gharahkhani, P., O'Leary, C.A., Pettitt, L., Forman, O.P., Boursnell, M., Mclaughlin, B.M., Ahonen, S., Lohi, H.T., Hernandez-Merino, E., Gould, D.J., Sargan, D., & Mellersh, C.C. (2010). An ADAMTS17 splice donor site mutation in dogs with primary lens luxation. Investigative Ophthalmology & Visual Science, 51(9), 4716-4721 . doi: 10.1167/iovs.09-5142

Gould, D., Pettitt, L., Mclaughlin, B.M., Holmes, N.P., Forman, O.P., Thomas, A.H., Ahonen, S., Lohi, H.T., O'Leary, C., Sargan, D., & Mellersh, C. (2011). ADAMTS17 mutation associated with primary lens luxation is widespread among breeds. Veterinary Ophthalmology, 14(6), 378-384. doi: 10.1111/j.1463-5224.2011.00892.x