A research study, a collaboration between the University of Helsinki, UC Davis and the University of Jyväskylä, have discovered a new gene that is directly responsible for a congenital eye disease found in Irish Soft-Coated Wheaten Terriers. These dogs tend to suffer from a bilateral microphthalmia, which means they are born with very small eyes and anatomical defects, resulting in blindness that is incurable.
The researchers say that this disease is the most similar to the animal kingdom with the MAC (Microphthalmia-Anophthalmia-Coloboma) in humans, also responsible for blindness in children.
The research discovered that a gene, the RBP4 gene, is responsible for the occurrence of the disease and that it is passed on by the mother. So, for the puppy to be born with this congenital disease, the mother and the puppy need to be homozygous for this mutation to manifest the disease.
In healthy animals, the RBP protein binds the vitamin A and transports it from the liver to all other tissues and it is very important during pregnancy. This mutation shows a deletion mutation in the RBp4 gene.
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