Blue sclera

Blue sclera refers to a medical condition where the sclera, or the white part of the eye, appears blue. This condition is often a symptom of certain genetic disorders, such as osteogenesis imperfecta, Ehlers-Danlos syndrome, and Marfan syndrome.

Causes

Blue sclera is primarily caused by a thinning of the collagen in the sclera, which allows the underlying uvea to show through. This gives the sclera a blue appearance. The thinning of the collagen can be due to a variety of genetic disorders, including:

• Osteogenesis imperfecta: This is a group of genetic disorders that primarily affect the bones, causing them to break easily. Blue sclera is one of the most common symptoms of this condition.
• Ehlers-Danlos syndrome: This is a group of disorders that affect the connective tissues supporting the skin, bones, blood vessels, and many other organs and tissues. Some types of this syndrome can cause blue sclera.
• Marfan syndrome: This is a genetic disorder that affects the body's connective tissue, which holds all the body's cells, organs and tissue together. It also plays an important role in helping the body grow and develop properly. Blue sclera can be a symptom of this syndrome.

Diagnosis

Diagnosis of blue sclera is typically made through a physical examination of the eye. The doctor may also ask about any family history of genetic disorders. In some cases, a biopsy of the sclera may be performed to confirm the diagnosis.

Treatment

Treatment for blue sclera primarily involves managing the underlying condition causing the symptom. This may involve medication, surgery, or other treatments depending on the specific disorder. In some cases, no treatment may be necessary if the blue sclera is not causing any health problems.

See also

• Sclera
• Osteogenesis imperfecta
• Ehlers-Danlos syndrome
• Marfan syndrome