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H849

Primary Lens Luxation (PLL) is an eye condition in which the lens detaches from its normal attachments, leading to displacement (luxation), inflammation, glaucoma, and potential blindness.

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General information

Primary Lens Luxation (PLL) is an eye condition in which the lens detaches from its normal attachments, leading to displacement (luxation), inflammation, glaucoma, and potential blindness. PLL is caused by an autosomal recessive mutation in the ADAM metallopeptidase with thrombospondin type 1 motif 17 (ADAMTS17) gene.

Clinical features

Symptoms of PLL include: redness of the eye, squinting, tearing, a bluish or cloudy haze over the cornea, and visible lens displacement. Early symptoms of PLL can be observed from 20 months of age on. Complete luxation usually appears between 3-8 years of age.

Additional information

References

Pubmed ID: 20375329

Omia ID: 588

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