Deutsch
Hrvatski
Русский
Português
Primary Lens Luxation (PLL)
| Acronym: | PLL |
| Gene: | ADAMTS17 |
| Mutation: | c.1473+1G>A |
| Inheritance: | Autosomal recessive |
| Sample type: | CHS (Cheek Swab), WBE (Whole Blood EDTA) |
Genetics and characteristics
Primary lens luxation (PLL) is a canine familial disorder encountered at high frequency in several terrier breeds and in some other breeds with probable terrier coancestry. PLL is caused by the displacement of the lens because of the stretching or rupture of the zonular fibers that link ocular lenses in place behind the pupil. The disease can be caused by trauma or by a variety of conditions that distort normal ocular anatomies, such as glaucoma and intraocular tumors. (Guld et al. 2011) In most instances, PLL goes undetected until one of the lenses is grossly displaced. Concurrent iridodonesis usually signals subluxation in the opposite eye. Gross displacement of the lens in the second eye often follows weeks or months later. Ultrastructural abnormalities of the zonular fibers are already evident at 20 months of age, long before the initial luxation that typically occurs when the dogs are 3 to 8 years old. This suggests that PLL results from defective development or maintenance of the zonular fibers or both.
Results Reported As
Test Result |
Interpretation of test result |
CLEAR |
Tested mutation was not detected in animal with „clear“ result. Animal tested as clear has wild-type allele in homozygous state (i.e. two pairs of healthy alleles). It will not develop disease caused by tested mutation.* It will pass only wild-type allele to its offspring. |
CARRIER |
Tested mutation was detected in animal with „carrier“ result. Animal tested as carrier has one wild-type and one mutation allele, it is in heterozygous state. It will not develop disease caused by tested mutation.* It can pass wild-type or mutation allele to its offspring. |
AFFECTED |
Tested mutation was detected in animal with „affected“ result. Animal tested as affected has two copies of mutation alleles affecting the gene. It is likely the animal will experience a genetic disorder due to this mutation.** It will pass only mutation allele to its offspring. |
*Test excludes only tested mutation but not possible unknown mutations or factors that can lead to similar condition/symptoms.
** Potential unknown mutations or multiple other factors can possibly affect the likelihood of experiencing a genetic disorder.
References:
Farias, F.H.G., Johnson, G.S., Taylor, J.F., Giuliano, E., Katz, M.L., Sanders, D.N., Schnabel, R.D., McKay, S.D., Khan, S., Gharahkhani, P., et al. (2010). An ADAMTS17 Splice Donor Site Mutation in Dogs with Primary Lens Luxation. IOVS 51, 4716–4721.
Gould, D., Pettitt, L., McLaughlin, B., Holmes, N., Forman, O., Thomas, A., Ahonen, S., Lohi, H., O’Leary, C., Sargan, D., et al. (2011). ADAMTS17 mutation associated with primary lens luxation is widespread among breeds. Veterinary Ophthalmology 14, 378–384.