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Primary Lens Luxation (PLL)

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
OMIM
613195
Disease Code
PLL
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
Gene Name Text
ADAM metallopeptidase with thrombospondin type 1 motif, 17
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