Microphthalmia is an autosomal recessive disorder characterised by ocular and non-ocular manifestations. In Portuguese Water Dogs the disease is characterised by bilateral or unilateral microphthalmia, lens abnormalities and multiple additional anterior segment eye defects (cataract, corneal dystrophy, glaucoma etc.). Non-ocular manifestation of the disease includes stunted growth, dental malformations, and hematologic abnormalities, such as anaemia and thrombocytopenia.

Inheritance: autosomal recessive - read more
Mutation: DNAJC21 gene
Genetic test: The method used for genetic testing is extremely accurate and allows complete differentiation between affected animals, carriers and healthy dogs. DNA testing can be done at any age.
Disease control: read more
DNA test sample: EDTA whole blood (1.0 ml) or buccal swabs. Detailed information about sampling can be found here.