Microphthalmia (RBP4)

General description

Microphthalmia is characterized by an incomplete or unusually small development of one or both eyes. A genetic variant that causes a prenatal vitamin A deficiency can be responsible for the onset of the disease in Irish Soft Coated Wheaten Terriers. A genetic variant in the DNAJC21 gene causing microphthalmia with haematopoietic defects has been identified in Portuguese Water Dogs. Affected dogs show bilateral or unilateral microphthalmia with eyes being less than 50% of normal size as well as haematological abnormalities like thrombocytopenia and anemia.

Breeds

Irish Soft Coated Wheaten Terrier, Portuguese Water Dog