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H849

Primary lens luxation (PLL) is a defective development or maintance of the zonular fibers, or both.

10 working days

Specifications

Breeds

, , ,

Gene

Organ

specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue

Mode of Inheritance

Chromosome

Also known as

Year Published

General information

Primary lens luxation (PLL) is a defective development or maintance of the zonular fibers, or both. The cause of PLL is a mutation in a splice donor recognition site in the ADAMTS17 gene. The disease can be caused due to a trauma or a variety of conditions that effect the ocular anatomy.

Clinical features

PLL can be seen at the moment one of the lenses is displaced from the patellar fossa. Thereby, displacement of the lens in the second eye often follows weeks or months later. Abnormalities of the zonular fibers are evident at 20 months of age.

Additional information

References

Pubmed ID: 20375329

Omia ID: 588

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