Other names: Primary lens luxation, isolated canine ectopia lentis, PLL
Affected genes: ADAMTS17
Inheritance: Autosomal dominant incomplete
Mutation: CanFam3.1 3g.40782144G>A c.1473+1G>A
OMIA link: 000588-9615

Appropriate breeds for testing: American Eskimo Dog, American Hairless Terrier, Australian Cattle Dog, Australian Stumpy Tailed Cattle Dog, Biewer Terrier, Border Collie, Bull Terrier, Bull Terrier-Miniature, Carlin Pinscher, Chinese Crested, Chinese Foo, Fox Terrier, Fox Terrier - Miniature, Fox Terrier - Smooth, Fox Terrier - Toy, Fox Terrier - Wire, Jack Russell Terrier, Jagdterrier/German Hunting Terrier, Koolie, Lakeland Terrier, Lancashire Heeler, Lucas Terrier, Norfolk Terrier, Norwich Terrier, Parson Russell Terrier, Patterdale Terrier, Puli, Pumi, Rat Terrier, Russell Terrier, Sealyham Terrier, Teddy Roosevelt Terrier, Tenterfield Terrier, Tibetan Spaniel, Tibetan Terrier, Volpino Italiano, Welsh Terrier, Yorkshire Terrier

Symptoms:
Dislocation of the lens is an inherited disease that affects the eyes of several dog breeds. This condition causes the lens to detach and move from its normal position causing inflammation and glaucoma.
Primary lens dislocation is inherited in an incomplete autosomal dominant fashion in dogs, which means dogs that have only one copy of the mutated gene have an increased risk of developing the disease.

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.
Tzouganakis I, Tsvetanova A, Jeanes EC, Mellersh CS, Gould DJ. Investigation of the allele frequency of the G>A intron 10 ADAMTS17 mutation causing primary lens luxation in the Portuguese Podengo breed. Vet Ophthalmol. 2022 Jan;25(1):85-89. doi: 10.1111/vop.12960. [PubMed: 34870369]