Genetic Test
SIX6 (Six Homeobox 6) is a homeobox transcription factor that plays a crucial role in the development of various organs, including the eye and pituitary gland.
Proper eye development requires timely expression of SIX6 to promote proliferation and differentiation of ocular tissues.
Mutations in SIX6 disrupt these developmental processes, leading to structural abnormalities such as microphthalmia (small eyes), anophthalmia (absence of one or both eyes), and coloboma (defects in eye structures).
Disease Description
Congenital ocular malformations in dogs are hereditary disorders characterized by structural defects occurring early in eye development.
SIX6 is essential for the formation of eye components, particularly the retina and lens.
Mutations can cause abnormal eye size and morphology, including microphthalmia, coloboma, and corneal or lens malformations, resulting in severe visual impairment.
Affected dogs may exhibit vision loss from birth, with severity ranging from partial vision deficits to near-complete blindness depending on the extent of the abnormalities.
