Ectopia lentis

Ectopia lentis is a rare, hereditary disorder that affects the eyes, specifically the lens. The lens is a clear structure in the eye that helps to focus light on the retina. In people with ectopia lentis, the lens is displaced or malpositioned. This displacement can occur in any direction and can vary in severity. Ectopia lentis can be an isolated condition or it can be associated with other systemic disorders such as Marfan syndrome or Homocystinuria.

Causes

Ectopia lentis is usually caused by a mutation in the FBN1 gene. This gene provides instructions for making a protein called fibrillin-1. Fibrillin-1 is an important component of the connective tissue that provides strength and flexibility to many structures in the body. When the FBN1 gene is mutated, it can lead to the production of abnormal fibrillin-1 protein, which can cause the lens to become dislocated.

Symptoms

The symptoms of ectopia lentis can vary greatly from person to person. Some people may have no symptoms at all, while others may experience severe vision problems. Common symptoms include:

• Nearsightedness (myopia)
• Farsightedness (hyperopia)
• Astigmatism
• Blurry vision
• Double vision
• Glaucoma

Diagnosis

Ectopia lentis is typically diagnosed through a comprehensive eye examination. This may include a Slit lamp examination, which allows the doctor to examine the structures at the front of the eye under magnification. Genetic testing may also be performed to confirm the diagnosis and identify any associated systemic disorders.

Treatment

Treatment for ectopia lentis depends on the severity of the condition and the presence of any associated disorders. In mild cases, corrective lenses may be sufficient to improve vision. In more severe cases, surgery may be required to reposition or replace the dislocated lens.

See also

• Marfan syndrome
• Homocystinuria
• FBN1
• Slit lamp examination

References

Ectopia lentis Resources
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