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Microphthalmia, Anophthalmia & Coloboma (Wheaten Terrier Type)
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):
Australian Cobberdog, Mixed Breed, Soft Coated Wheaten Terrier,
