Microphthalmia with haematopoietic defects, DNAJC21-related
DNAJC21-related microphthalmia · Microphthalmia with bone marrow failure · Microphthalmia and haematopoietic defects · DNAJC21-associated microphthalmia · Mikrophthalmie mit hämatopoetischen Defekten · Canine Congenital Microphthalmos with Hematopoietic Defects · cCMHD
What it is
This severe inherited disorder affects eye development and the blood-producing system in the bone marrow, caused by a genetic mutation in the DNAJC1 gene. Because the bone marrow cannot produce enough vital blood cells, affected dogs suffer from a lack of oxygen-carrying red blood cells (anemia) and a severely weakened immune system. This condition is genetically similar to bone marrow failure syndromes seen in humans.
How it presents
Symptoms typically appear in early puppyhood. Owners will notice abnormally small, often blind eyes, extreme lethargy, pale gums, and a high susceptibility to severe infections.
Treatment
The condition is currently incurable, with treatment limited to supportive care like blood transfusions and intensive veterinary management. This supportive therapy is lifelong and typically costs between 1,000 and 6,000 EUR, though it generally only extends the dog's life for a short period.
How it's tested
Affected breeds
Treatment cost
Estimated range of typical treatment cost. Actual cost depends on severity, clinic and region.