Microphthalmia (DNAJC21-related) – Portuguese Water Dog
Code: H855
Short description
Microphthalmia is a birth defect that affects eye development.
General information
Microphthalmia is a birth defect that affects eye development. It happens due to an autosomal recessive mutation in the DNAJC21 gene, which is part of the HSP40 protein family. This mutation can also cause problems with blood cell formation. It is observed in the Portugese Water Dog.
Specifications
| Breeds | |
|---|---|
| Gene | DNAJC21 |
| Organ | Digestive System |
| Specimen | Copan eNAT swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | Autosomal Recessive |
| Chromosome | 4 |
| Year Published | 2018 |
Clinical features
Affected dogs are characterized by an abnormally small globe, often affecting both eyes. Additional eye abnormalities include cataract, corneal dystrophy, a small or absent lens, glaucoma, retinal lesions, and persistent pupillary membranes (membrana pupilaris persistens, PPM, MPP). Non-ocular problems include blood formation disorders such as thrombocytopenia (low platelet count) and anemia (low red blood cell count). With age, red blood cell counts and hematocrit levels sometimes improve, but platelet counts often remain low. In addition, dogs may have changes in tooth enamel, growth retardation, and delayed tooth eruption.
References
Pubmed ID: 38682429
Omia ID: 2847
Turnaround information
- 15 working days