Osteopetrosis, AR

The features of OPTB1 are macrocephaly, progressive deafness and blindness, hepatosplenomegaly, and severe anemia beginning in early infancy or in fetal life. Deafness and blindness are generally thought to represent effects of pressure on nerves.


Diagnostic recommendations

Additional Information

Diagnostic laboratories



Therapeutic options

  • Bone marrow transplant can alleviate many features of the disease but needs to be performed early to minimise optic nerve encroachment. The prognosis is variable but improves if bone marrow transplant is performed early.
  • Osteopetrosis, eMedicine

Research programs, clinical trials