Retinal detachment in Marfan syndrome

Area of Science:

• Ophthalmology
• Genetics
• Retinal Surgery

Background:

• Marfan syndrome is a genetic disorder affecting connective tissue, often leading to ocular complications.
• Retinal detachment (RD) is a serious complication that can occur in patients with Marfan syndrome.
• Surgical outcomes for RD in Marfan syndrome patients can vary.

Purpose of the Study:

• To evaluate and compare postsurgical outcomes of retinal detachment (RD) repair in patients with Marfan syndrome.
• To assess the impact of lens status (phakic, aphakic, pseudophakic) on RD repair success in Marfan syndrome patients.

Main Methods:

• Retrospective review of two cohorts of Marfan syndrome patients who underwent RD surgery.
• Cohort 1: 12 patients (15 eyes) operated recently at the Wilmer Institute.
• Cohort 2: 16 patients (24 eyes) operated several years earlier elsewhere.

Main Results:

• In the recent cohort, all 5 phakic eyes achieved a final visual acuity (VA) of 20/80 or better with a flat retina.
• In the recent cohort, 60% of 10 aphakic eyes had VA 20/80 or better after RD repair.
• In the earlier cohort, only 29% of 17 aphakic/pseudophakic eyes had a flat retina and VA 20/80 or better, with 71% having no light perception.

Conclusions:

• Past RD repair outcomes in Marfan syndrome patients were significantly worse in aphakic eyes.
• Recent surgical approaches appear to offer a good prognosis for RD repair in Marfan syndrome patients, irrespective of lens status.
• Improved surgical techniques and management likely contribute to better outcomes in contemporary RD repair for Marfan syndrome.