Glaucoma
Axenfeld-Rieger Syndrome
Also known as: axenfeld-rieger syndrome, axenfeld rieger, axenfeld anomaly, rieger anomaly, rieger syndrome, posterior embryotoxon, anterior segment dysgenesis, corectopia
Filed as: Soon
Source-cited from the record's own evidence list. Clinical content programme led by Dr Ankit Mathur, PhD, Grad Cert Ocu Thera, B.S. Optom. How the clinical content is governed
Clinical decision support only
Overview
A congenital spectrum of anterior segment maldevelopment in which abnormal angle structure, or strands of peripheral iris attached to the cornea, obstruct aqueous outflow and can raise the pressure. Axenfeld anomaly is a prominent posterior embryotoxon with peripheral iris strands attached to it. Rieger anomaly adds iris atrophy, a displaced or misshapen pupil and ectropion uveae. Rieger syndrome adds dental and facial features. It is usually inherited in an autosomal dominant pattern, so a family history is common. It affects both eyes but can be asymmetric. Glaucoma can develop at any age, so follow-up is lifelong.
Recognition
Symptoms: what patients report
- Often none; found at a routine examination
- An odd-shaped or off-centre pupil noticed by the patient or a parent
- Glare or photophobia where iris atrophy is marked
- A family history of glaucoma at a young age, or of the same eye appearance
Signs: what the examination shows
- Prominent posterior embryotoxon: an opaque ridge inside the limbus, where Schwalbe's line is thickened and displaced forward
- Peripheral iris strands running to the cornea, visible at the slit lamp or on gonioscopy
- Peripheral anterior synechiae
- Rieger anomaly: iris stromal atrophy, corectopia or other pupil distortion, extra holes in the iris, ectropion uveae
- Intraocular pressure within the normal range or raised
- Bilateral findings that may be asymmetric
- Systemic features of Rieger syndrome: few or small teeth, a flat mid-face, a broad nasal bridge and widely set inner canthi
What OptoGuide™ covers for axenfeld-rieger syndrome
- Pattern reasoning: what this combination of findings points to, and its differentiators
- Don't-miss risks and escalation triggers
- Management tiers with linked Australian therapeutics
- Referral urgency, specialty, and letter drafting