TT - PLL | Pet Pursuit

PLL

Primary Lens Luxation

Nimi:	Primary lens luxation (PLL)
Geenin sijainti:	ADAMTS17
Kromosomi:	3
Mutaatio:	c.1473+1G>A
Oireyhtymä:	Oftamologinen
Periytymismekanismi:	Autosomaalisesti resessiivinen
Testityyppi:	Suora mutaatiotesti
Tyypillinen sairastumisikä:	20 months => Complete PLL in 3-8 years.

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Yleistä tietoa
Primary Lens Luxation (PLL) is a blinding, and highly painful. It occurs when the delicate, tiny fibers (zonules) that hold the eye's lens in place weaken and break down, causing the lens to shift from its normal position. 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. In affected dogs the zonular fibres which support the lens breakdown or disintegrate, causing the lens to fall into the wrong position within the eye.

Kliiniset oireet
Red, Teary, or Cloudy Eyes: The eye often appears inflamed, with a bluish or hazy appearance. Pain and Discomfort: Signs include squinting, frequent blinking, or pawing at the eye. Vision Loss: Affected dogs may show signs of impaired vision or sudden blindness. Change in Pupil Size/Shape: The pupil may appear abnormal as the lens shifts. Visible Lens Displacement: The lens may move forward (anterior) into the front chamber, which is a medical emergency, or fall backward (posterior). Vision Loss: Affected dogs may show signs of impaired vision or sudden blindness. Change in Pupil Size/Shape: The pupil may appear abnormal as the lens shifts. Iridodonesis: A characteristic wobbling or trembling of the iris, which occurs because the lens is no longer supporting it. Secondary Glaucoma: If the lens shifts forward, it blocks fluid drainage, causing a rapid increase in eye pressure (glaucoma), which is very painful. Dogs affected from PLL have painful glaucomas and blindness due to a dislocation of the lens due to a breakdown or disintegration of the zonula fibres. PLL can be inherited or acquired. First clinical signs of the inherited form of PLL are detectable at the very young age of ~20 months. A complete lens luxation typically occurs at the age of 3 to 8 years. Please note that symptoms and age-frames may also be of other types and may differ from those mentioned above.

Sairastavuus
CLEAR / N/N		CLEAR / N/N = Dogs with N/N genotype will not have this variant of primary lens luxation. In most cases heterozygous carriers are healthy.
CARRIER / N/PLL		CARRIER / N/PLL = Dogs with N/PLL genotype are at slight risk of developing primary lens luxation and are carriers. With regard to the data found, a small percentage of PLL-carriers become ill; the disease develops in 2 to 20% carriers of the mutation (the assumption is rather close to the lower limit).
AFFECTED / PLL/PLL		AFFECTED / PLL/PLL = Dogs with PLL/PLL genotype will have or are at high risk of developing primary lens luxation, a painful condition that can lead to blindness if untreated.

Periytyminen