Primary Lens Luxation – PLL
Code: H849
Short description
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.
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.
Specifications
| Breeds | Biewer Terrier, Chinese Crested, Patterdale Terrier, Sealyham Terrier, Volpino Italiano, German Hunting Terrier, Jack Russell Terrier, Lancashire Heeler, Miniature Bull Terrier, Parson Russell Terrier, Rat Terrier, Tenterfield Terrier, Tibetan Terrier, Toy Fox Terrier, Welsh Terrier, Yorkshire Terrier |
|---|---|
| Gene | ADAMTS17 |
| Chromosome | 3 |
| Mutation | c.1473+1G>A |
| Organ | Sensory organs |
| Specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Also known as | PLL |
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.
References
Pubmed ID: 20375329
Year published: 2010
Omia ID: 588
Omia variant ID:
Turnaround information
- 15 working days