Primary Lens Luxation

Other Names: Lens luxation, PLL
Affected Genes: ADAMTS17
Inheritance: Autosomal Incomplete Dominant
Mutation: Point Mutation

Add To Cart Search Tests

Common Symptoms

Primary Lens Luxation (PLL) is an inherited abnormality of the eye affecting dogs. It is characterized by dislocation of the lens in the eye due to the breakage of the ligaments (called zonules) that hold the lens in place. The age of onset is variable depending on whether a dog has one or two copies of the Mutation, but affected dogs typically present between 2 to 8 years of age with sudden signs of eye irritation. Symptoms of lens luxation include excessive blinking, squinting and tearing of the eye. Dislocation of the lens can occur in both the forward and backward position within the eye, but dislocation in the forward position is more common and serious. If not treated immediately, lens dislocation can lead to Glaucoma and vision loss.


Breed-Specific Information for the Border Collie

Border collie is included as a breed susceptible to primary lens luxation because of its close relatedness to the Lancashire heeler breed, which is known to develop this disease due to Mutation of the ADAMTS17 gene. The frequency of the causal mutation in the general border collie population is unknown.


Testing Tips

Genetic testing of the ADAMTS17 gene in border collies will reliably determine whether a dog is a genetic Carrier of primary lens luxation. Primary Lens Luxation is inherited in an Autosomal Recessive manner in dogs meaning that they must receive two copies of the mutated gene (one from each parent) to develop the disease. Though lens luxation is most commonly seen in dogs having two copies of the mutated gene, carrier dogs have a low, but increased risk of lens luxation. Thus, dogs that have one or two mutant copies of the gene are considered at-risk for lens luxation. When a carrier of this Mutation is bred with another dog that also is a carrier of the same mutation, there is risk of having affected pups. For each pup that is born to this pairing, there is a 25% chance that the puppy will inherit two copies of the mutation and a 50% chance that the puppy will inherit one copy of the mutation and, in either case, may be susceptible to lens luxation. Reliable genetic testing is important for determining breeding practices. Because symptoms may not appear until adulthood, genetic testing should be performed before breeding. In order to eliminate this mutation from breeding lines and to avoid the potential of producing affected pups, breeding of known carriers is not recommended. Border collies that do not have the mutation have no increased risk of having affected pups due to this mutation when bred to a dog that is also clear for this mutation. However, because there may be multiple mutations that cause PLL in dogs, a normal result in the ADAMTS17 gene may not exclude PLL in a pedigree.


There may be other causes of this condition in dogs and a normal result does not exclude a different mutation in this gene or any other gene that may result in a similar genetic disease or trait.


References

  • Donner J, Kaukonen M, Anderson H, Moller F, Kyostila K, Sankari S, Hytonen M, Giger U, Lohi H. Genetic Panel Screening of Nearly 100 Mutations Reveals New Insights into the Breed Distribution of Risk Variants for Canine Hereditary Disorders. PLoS One. 2016 Aug 15;11(8):e0161005. [PubMed: 27525650]
  • Farias FH, Johnson GS, Taylor JF, Giuliano E, Katz ML, Sanders DN, Schnabel RD, McKay SD, Khan S, Gharahkhani P, O'Leary CA, Pettitt L, Forman OP, Boursnell M, McLaughlin B, Ahonen S, Lohi H, Hernandez-Merino E, Gould DJ, Sargan DR, Mellersh C. An ADAMTS17 splice donor site mutation in dogs with primary lens luxation. Invest Ophthalmol Vis Sci. 2010 Sep; 51(9):4716-21. [PubMed: 20375329]
  • Gharahkhani P, O’Leary C, DuffyD, Bernays M, Kyaw-Tanner M. Primary Lens Luxation in Australian Tenterfield and Miniature Bull Terriers is due to an old ADAMTS17 mutation and is an additive trait. Open Genomics J. 2012 Mar;5:7-13 DOI: 10.2174/1875693X01205010007. [Not in PubMed]
  • Gould D, Pettitt L, McLaughlin B, Holmes N, Forman O, Thomas A, Ahonen S, Lohi H, O’Leary C, Sargan D, Mellersh C. ADAMTS17 mutation associated with primary lens luxation is widespread among breeds.Vet Ophthalmol. 2011 Nov;14(6):378-84. [PubMed: 22050825]
  • PLL test results and statistics. [Internet]. 2010 [cited 7 April 2014]. Available at http://www.offa.org/stats_dna.html?dnatest=PLL.