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Primary Lens Luxation (PLL)

Breed: German Shepherd Dog/ Double coat

Generic Phene Data

Breeds
Relevance Rating: There is strong evidence or research available for these breeds
Relevance Rating: There is moderate evidence or research available for these breeds
Relevance Rating: There is some evidence or research available for these breeds
Relevance Rating: The test is unknown, there is no evidence (i.e. research) available, or it has not been evaluated yet. These tests may or may not be meaningful for these breeds
GTPs
EVG Diagnostics
AnimaLabs

General

Disease Name
Primary Lens Luxation (PLL)
OMIA
588
Gene Name
ADAMTS17
Mutation
c.3070_3075delCGTGGT
Mutation 2
g.40,782,144G>A
Mutation 3
c.1473+1G>A
Mutation Notes
mutations are breed-specific
Test Type
Genetic Disease/Disorder
Synonyms/Related Terms
isolated canine ectopia lentis
Details
In affected dogs, the zonular fibres which support the lens in the eye, breakdown or disintegrate, causing the lens to fall into the wrong position within the eye. PLL is a painful and blinding inherited eye condition that affects many breeds of dog. Clinical signs include reddening of the eye, glaucoma (increased pressure within the eyeball) and loss of vision, which can be detectable at 20 months. Complete lens luxation typically occurs at the age of 3-8 years.
Details 2
In affected dogs, the zonular fibres which support the lens in the eye, breakdown or disintegrate, causing the lens to fall into the wrong position within the eye. PLL is a painful and blinding inherited eye condition that affects many breeds of dog. Clinical signs include reddening of the eye, glaucoma (increased pressure within the eyeball) and loss of vision, which can be detectable at 20 months. Complete lens luxation typically occurs at the age of 3-8 years.
Published
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, D., Mellersh, CS.: An ADAMTS17 Splice Donor Site Mutation in Dogs with Primary Lens Luxation. Invest Ophthalmol Vis Sci :, 2010. Pubmed reference: 20375329. DOI: 10.1167/iovs.09-5142.
Published 2
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 14:378-384, 2011. Pubmed reference: 22050825. DOI: 10.1111/j.1463-5224.2011.00892.x.
Published 3
S. Betschart, M. Hässig, B. Spiess, [Lens luxation in dogs: a retrospective study of 134 dogs (2000-2011)]. Schweiz Arch Tierheilkd 156:125-31, 2014. Pubmed reference: 24568806. DOI: 10.1024/0036-7281/a000562. (from German translation)
Body/System/Process
Eye
Inheritance
ARIP

Breed Specific Info

Researched Breeds
Australian Cattle dog, Chinese Crested, Jack Russell Terrier, Jagdterrier, Lancashire Heeler, Miniature Bull Terrier, Parson Russell Terrier, Patterdale terrier, Portuguese Podegno, Rat Terrier, Sealyham Terrier, Tenterfield Terrier, Tibetan Terrier, Toy Fox Terrier, Volpino Terrier, Welsh Terrier, Wirehaired Fox terrier, Yorkshire Terrier
Breed-specific 1
Jack Russell Terrier, Miniature Bull Terrier, Lancashire Heeler
Breed-specific 1 Details
Researcher reported these as the "discovery breed", reported in first publication describing this mutation. Strong evidence for causality, including demonstartion of exon skipping in RNA from clinically affected dogs. Farias et al., (2010) An ADAMTS17 Splice Donor Site Mutation in Dogs with Primary Lens Luxation. Investigative Ophthalmology and Visual Science, 51, 4716-4721
Breed-specific 2
Shar Pei
Breed-specific 2 Details
Breed-specific mutation is c.3070_3075delCGTGGT. Please note that there appears to be a relationship between PLL and POAG (ADAMTS17), where, for Shar Pei, in the ADAMTS17 gene, the breed-specific mutation can be responsible for either PLL or POAG symptoms
Breed-specific 3
Australian Cattle Dog, Chinese Crested Dog, Italian Volpino, Jagd Terrier, Parson Russell Terrier, Patterdale Terrier, Rat Terrier, Sealyham Terrier, Tenterfield Terrier, Tibetan Terrier, Toy Fox Terrier, Welsh Terrier, Wire-haired Fox Terrier, Yorkshire
Breed-specific details 3
Origional researcher comments: Publication demonstrating clinically affected dogs of multiple breeds (in addition to 3 discovery breeds reported in Farias et al, 2010) are homozygous for mutation. Provided evidence that this mutation is widespread among breeds. No functional evidence provided in this publication, but Farias et al., demonstrated that mutation is highly penetrant, indicating likely to be causal in additional breeds. Gould et l., (2010) ADAMTS17 mutation associated with primary lens luxation is widespread among breeds. Veterinary Ophthalmology, 14, 1-7.

Key Comment

Findings indicate the mutation segregates in a large number of different breeds of dog, many of which are terriers or breeds with terrier co?ancestry, but some of which have more diverse origins. Research indicates that the mutation is present at high frequency within most of the breeds in which it segregates. (Gould et. al, 2011)

HSP Test-Specific Data

EVG Diagnostics

GTP
GTP Name
EVG Molecular Diagnostics
Breed
OMIA
Gene Name
ADAMTS17
Mutation
c.1473+1G>A

AnimaLabs

GTP
GTP Name
AnimaLabs
Breed
OMIA
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