Skip to main content

Primary Lens Luxation (PLL)

Primary Lens Luxation (PLL)

Lens Luxation

The lens of the eye normally lies immediately behind the iris and the pupil and is suspended in place by a series of fibers. It functions to focus light rays on the retina at the back of the eye. When partial or complete breakdown of these fibers occurs, the lens may become partially or fully dislocated from its normal position. Primary lens luxation is a heritable disease in many breeds and spontaneous luxation of the lens occurs in early adulthood (most commonly 3-6 years of age) and often affects both eyes, although not necessarily at the same time. Lens luxation can lead to inflammation and glaucoma that can result in painful, teary, red eyes that may look hazy or cloudy. If detected early, surgical removal of the lens can be beneficial. Medical treatment of inflammation and glaucoma in the form of topical and oral medications can relieve much of the discomfort associated with this disease. There can be other non-heritable causes for Lens luxation including trauma. It is important to note that the genetic cause of PLL (POAG-PLL) in Shar-Peis is due to an alternative mutation in the same gene and is not detected by this test.

Reading Your Results

A. (CLEAR/NORMAL):

These dogs have two copies of the normal gene and will neither develop Primary Lens Luxation nor pass this mutation to their offspring.

B. (CARRIER/NOT AFFECTED):

These dogs have one copy of the normal gene and one copy of the mutation associated with this disease. It is estimated that they can have up to a 20% chance of developing Primary Lens Luxation and will, if bred, pass the mutation to 50% of its offspring, on average

C. (AT RISK/AFFECTED):

These dogs have two copies of the mutation associated with Primary Lens Luxation which can result in the lens of the eye becoming partially or fully dislocated from its normal position.

Additional Details

Inheritances

Autosomal Incomplete Dominant

Affected gene

ADAMTS17

Chromosome

Ch. 3

Mutation

Chr3:40782144 (CanFam3): G>A

Publication:

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]