What Causes Blue Sclera?

Blue sclera, or a blue tint to the white’s of a patient’s eyes, can be caused by the disease osteogenesis imperfecta, according to Medline Plus. Osteogenesis imperfect is a congenital disease that is most commonly caused by a defect in the gene that codes for type 1 collagen.

Osteogenesis imperfecta is a disease that varies in severity, states Medline Plus. The severity of the disease depends on the number of gene defects that are present in the gene that codes for type 1 collagen. Type 1 collagen is an essential part of bones, so if it is not synthesized properly, then bones may grow brittle easily.

This disease only requires one copy of the defective gene for a patient to present with it. Most cases of the disease result from genetic inheritance and occur when one parent has the illness and passes it on to her child, explains MedlinePlus. Symptoms of the disease include blue sclera, multiple bone fractures throughout the patient’s life, short stature and early hearing loss. Some patients may have loose joints and flat feet since type 1 collagen is also present in ligaments throughout the body. There is not a cure for the disease, but specific medication therapies can reduce pain and medical issues that are associated with osteogenesis imperfecta.