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Primary Lens Luxation (PLL)

General

Disease Name
Primary Lens Luxation (PLL)
Mutation
c.3070_3075delCGTGGT
Mutation 2
g.40,782,144G>A
Test Type
Genetic Disease/Disorder
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.
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