What is the recommended treatment for symptomatic retinal holes in patients with Marfan syndrome?

Treatment of Symptomatic Retinal Holes in Marfan Syndrome

Symptomatic retinal holes in patients with Marfan syndrome should be promptly treated with laser photocoagulation or cryotherapy to create a chorioretinal adhesion around the break, reducing the risk of retinal detachment from over 50% to less than 5%. 1

Pathophysiology and Risk Assessment

Patients with Marfan syndrome have an increased risk of retinal complications due to:

• Lens dislocation (ectopia lentis) - present in most Marfan syndrome patients 2
• Higher incidence of retinal detachment - bilateral detachment occurs in up to 69% of affected patients 3
• Variety of retinal break types - from simple holes to giant tears 4

Diagnostic Approach

Initial Evaluation

• Comprehensive dilated fundus examination with scleral depression to identify:
  • Location and size of retinal holes
  • Presence of vitreous traction
  • Signs of shallow retinal detachment
  • Vitreous pigment or hemorrhage (indicates higher risk)

Imaging

• Optical Coherence Tomography (OCT) to assess retinal architecture and confirm extent of holes 1
• B-scan ultrasonography when media opacity prevents clear visualization 5
• Wide-field photography may be helpful but does not replace careful ophthalmoscopy 5

Treatment Algorithm

1. Immediate Management

• For symptomatic retinal holes without detachment:

  • Laser photocoagulation or cryotherapy to create chorioretinal adhesion around the break 5, 1
  • Complete surrounding of the tear and any accompanying subretinal fluid is essential

• For retinal holes with shallow detachment:

  • More aggressive treatment with either:
    • Extensive laser photocoagulation/cryotherapy if limited subretinal fluid
    • Surgical intervention if detachment is progressing 5

2. Surgical Options (if indicated)

• For uncomplicated retinal detachments: Scleral buckling with encircling band (89% success rate) 4
• For complicated retinal detachments: Pars plana vitrectomy, scleral buckling, and retinal tamponade (56-100% success rate) 4, 6
• Consider prophylactic treatment of the fellow eye due to high bilaterality (69%) 3

Follow-up Protocol

• First follow-up: 1-2 weeks post-treatment to assess adequacy of chorioretinal scar 5
• Second follow-up: 2-6 weeks post-treatment to evaluate treatment effectiveness 5
• Long-term: Regular examinations every 3-6 months due to 10-16% risk of developing additional breaks 5

Special Considerations in Marfan Syndrome

• Lens status: Retinal detachment can be successfully repaired without removing dislocated lenses in many cases 4
• Higher recurrence risk: Patients with Marfan syndrome have a significantly higher rate of complications compared to non-Marfan patients 2
• Bilateral monitoring: Due to high bilaterality rate, careful monitoring of both eyes is essential 3

Patient Education

• Instruct patients to report new symptoms immediately (flashes, floaters, visual field loss, decreased acuity) 5
• Explain the higher risk of bilateral involvement and potential need for prophylactic treatment
• Emphasize importance of long-term follow-up due to risk of new breaks developing

Prognosis

With appropriate surgical intervention, excellent anatomic reattachment rates (75-100%) and good visual outcomes can be achieved in Marfan syndrome patients with retinal detachment 3, 6. Visual acuity of 20/125 or better can be achieved in most successfully treated cases 3.

Pitfalls to Avoid

• Delaying treatment of symptomatic holes (increases detachment risk)
• Inadequate surrounding of breaks with laser/cryotherapy
• Failing to monitor the fellow eye closely
• Overlooking signs of proliferative vitreoretinopathy, which is associated with poorer outcomes 4