Glaucoma Clinic ! Axenfeld-Rieger Syndrome

ARS sits within the spectrum of anterior segment dysgenesis, where the structures formed during embryologic development of the eye do not mature normally.

Key Ocular Features

Patients commonly present with:

• Iris hypoplasia (underdeveloped iris stroma)
• Corectopia (displaced pupil)
• Ectropion uveae (posterior pigment epithelium visible on the anterior surface)
• Prominent Schwalbe line (posterior embryotoxon)
• Iris strands adhering anteriorly to the Schwalbe line

These structural abnormalities reflect abnormal neural crest cell migration during development.

Glaucoma Risk

About 50% of patients develop glaucoma, often in early childhood. The mechanism is usually:

• Angle anomaly (malformed trabecular meshwork), or
• Secondary synechial angle closure

This makes lifelong monitoring essential, even if intraocular pressure (IOP) is normal early on.

Systemic Associations

ARS is not just an ocular condition. Many patients show:

• Dental anomalies (hypodontia, microdontia)
• Craniofacial abnormalities
• Umbilical defects

A Recent Case: When Observation Is the Right Choice

We recently evaluated a 10-year-old child presenting with poor vision.

Clinical Findings

• Count fingers vision
• Features consistent with ARS: iris hypoplasia, corectopia, anterior iris adhesions
• Microphthalmia in one eye
• Persistent pupillary membrane in the microphthalmic eye
• No cataract
• Normal intraocular pressure

The parents had not recognized the issue earlier, and this was the child’s first detailed ophthalmic evaluation.

Clinical Dilemma: To Intervene or Not?

At presentation, the key question was whether any surgical or medical intervention would improve vision. After thorough assessment, the decision was: no immediate intervention.

Why?

• By 10 years of age visual development is complete.
• The decrease vision is due to amblyopia.
• No active disease like catract or glaucoma is seen.
• Any surgery is not going to help.

It would be better to observe the child for any disease progression.

Way Forward

Check up with the doctor for:

• eye pressure
• optic disc size
• irido corneal angle

Keep a close look at:

• Disease progression due to IOP
• Disease progression due to LENS

When to Intervene

Any surgery may be considered if:

• If eye pressure are increased
• Lens changes are seen
• subluaxation of lens is seen

At that point, targeted treatment can be planned.

Conclusion

The conclusion in cases of ARS is simple:

• Strong association of ARS with glaucoma.
• Keep regular checkup for early detection.
• It is not always good to go for a procedure. Just observing is sufficent.

Eye doctor should keep an eye of early detection of the disease.

Parents should keep a realistic expectations, in such cases saving the existing vision is more important than improving the vision.