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Microphthalmia

Microphthalmia is an inherited eye disease affecting dogs, including breeds such as ,Australian Cobberdog, Soft Coated Wheaten Terrier, characterized by underdeveloped eyes smaller than normal, often with malformations of the optic nerve and variable loss of vision.

Affected Genes: RBP4

Inheritance: Complex Inheritance

Variant(canFam6):
chr28:8006693: 3 bp deletion (delTTC)

Breed: Australian Cobberdog
Soft Coated Wheaten Terrier

References:
Kaukonen M, Woods S, Ahonen S, Lemberg S, Hellman M, Hytonen MK, Permi P, Glaser T, Hannes L. Maternal Inheritance of a Recessive RBP4 Defect in Canine Congenital Eye Disease. Cell Reports 2019 23(9):2643-2652.