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Microphthalmia, Anophthalmia, and Coloboma (Wheaten Terrier Type)

US$ 75.00 RRP

US$ 50.00 (USER PRICE)

Description:

This is an inherited disorder of the eyes caused by a mutation within the retinol-binding protein gene (RBP4), responsible for carrying vitamin A (retinol) to peripheral tissues, including eye, where is participates in the development of the eye.

Affected dogs have small eyes which seems to be recessed in the eye socket, condition known as enophthalmos. Also, third eyelids may be prominent. These characteristics are often associated with other eye disorders, such as the abnormalities of the cornea, anterior chamber, lens or retina.

Other symptoms may appear, such as clumsy behaviour, anxiety, difficulties with coordination, asocial behaviour, excessive sleepiness, partial vision loss.

Category:

Ophthalmologic - Associated with the eyes and associated structures

Gene:

RBP4 gene

Variant Detected:

c.282_284del

Severity:

Low-Moderate. This disease can cause some discomfort and/or dysfunction in the affected animal. It does not generally affect life expectancy.

Mode of Inheritance:

Autosomal Recessive

Research Citation(s):

Kaukonen, M., Woods, S., Ahonen, S., Lemberg, S., Hellman, M., Hytönen, M.K., Permi, P., Glaser, T., Lohi, H. : Maternal Inheritance of a Recessive RBP4 Defect in Canine Congenital Eye Disease. Cell Rep 23:2643-2652, 2018. Pubmed reference: 29847795. DOI: 10.1016/j.celrep.2018.04.118.

Associated Breed(s):

Mixed Breed, Soft Coated Wheaten Terrier,