Name of the Condition

• Marfan Syndrome with Ocular Manifestations
• ICD-10 Code: Q87.42

Summary

Marfan syndrome is a genetic disorder that affects the body's connective tissue, influencing the structure and support of the vascular, skeletal, and ocular systems. When Marfan syndrome includes ocular manifestations, it can impact vision due to abnormalities in eye structure.

Causes

The condition is primarily caused by mutations in the FBN1 gene, which encodes the protein fibrillin-1, pivotal for the elasticity and strength of connective tissues. Marfan syndrome is inherited in an autosomal dominant pattern, meaning a single altered gene from either parent can cause the disorder.

Risk Factors

• Having a parent with Marfan syndrome significantly increases risk.
• Both genders and all ethnicities can be affected equally.

Symptoms

• Eye symptoms may include lens dislocation (ectopia lentis), nearsightedness, and a predisposition to retinal detachments and early glaucoma or cataracts.

Diagnosis

• Comprehensive eye exams, including slit-lamp examinations and imaging.
• Genetic testing to confirm mutations in the FBN1 gene.
• Echocardiograms and physical exams to assess systemic manifestations.

Treatment Options

• Corrective lenses or refractive surgery to address vision issues.
• Regular monitoring by an ophthalmologist to manage and prevent complications like retinal detachment.
• Systemic treatments involve managing other manifestations such as cardiovascular problems, often with medication or surgery.

Prognosis and Follow-Up

• Ongoing monitoring improves outcomes, especially with advances in treatment.
• Patients often require lifelong follow-up care with multiple specialists, including an ophthalmologist.

Complications

• Untreated ocular issues can lead to severe visual impairment.
• Other systemic complications include cardiovascular issues that can be life-threatening if not managed properly.

Lifestyle & Prevention

• Regular medical check-ups to monitor and manage symptoms.
• Wearing protective eyewear to prevent trauma and potential worsening of ocular symptoms.

When to Seek Professional Help

• Sudden changes in vision, such as flashes of light or sudden loss of vision, require immediate medical attention.
• Any new symptoms or concerns related to visual health should be evaluated by a healthcare professional.

Additional Resources

• National Marfan Foundation (marfan.org)
• American Academy of Ophthalmology (aao.org)

Tips for Medical Coders

• Ensure accurate coding by confirming the presence of ocular manifestations specifically related to Marfan syndrome.
• Avoid confusion with other syndromes or conditions that have ocular symptoms but differ in etiology or systemic involvement.