Glaucoma Screening in Marfan Syndrome: Protocol and Rationale

Marfan syndrome (FBN1 mutation) predisposes to early-onset glaucoma due to:

• Zonular weakness → lens subluxation → pupillary block / phacolytic glaucoma.
• Connective tissue dysplasia → abnormal trabecular meshwork / Schlemm's canal → impaired outflow.
• Axial elongation → stretched sclera → altered ONH biomechanics.

Recommended Screening (Ophthalmology)

1. Visual acuity (baseline, monitor).
2. Tonometry (IOP): Goldmann applanation; q6–12 months. Target IOP lower if optic nerve changes.
3. Ophthalmoscopy (dilated): Optic nerve head (cup/disc ratio, rim, hemorrhage, notch).
4. Gonioscopy: Angle anatomy (narrow? synechiae? lens position?).
5. Pachymetry: Central corneal thickness (Marfan corneas often thin → underestimates IOP).
6. OCT RNFL/GCC: Structural baseline, detect early thinning.
7. Visual field (Humphrey 24-2): Functional baseline.

Frequency

• Annual comprehensive exam from diagnosis.
• More frequent if IOP elevated, optic nerve suspicious, lens subluxation.
• Pediatric: earlier, under anesthesia if needed.

Early detection preserves vision; lens surgery may be needed if subluxation causes glaucoma.