Mikrophthalmie (RBP4)
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
Order details
| Test number | 8508 |
| Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
| Test duration | 7-14 working days |
Test specifications
| Inheritance | autosomal recessive |
Detailed description
Microphthalmia is characterized by an incomplete or unusually small development of one or both eyes.
