1. Axenfeld-Rieger syndrome
Axenfeld-Rieger syndrome
소아안과 conference Inst. 박신혜 /R2 조순영

2. Definition
Developmental disorder of ocular & extraocular structure from neural crest
Axenfeld anomaly
Rieger anomaly & Reiger syndrome
4q25(PITX2), 6p25, 13q14

3. Characteristic Bilateral developmental ocular anomaly
Family Hx. Of AD inheritance
No gender predilection
Systemic developmental defect
Associated glaucoma

4. Pathogenesis Endothelium remains in iris & AC angle
Iris stromal thinning, corectopia, hole formation
RIEG/PIx2 (4q 25)
Neural crest derivation
Extraocular defect : teeth & facial bone

5. Axenfeld anomaly Posterior embryotoxon Posterior embryotoxon
Post. Embyrotoxon c attachment of strands
of peripheral iris tissue

6. Rieger anomaly Posterior embryotoxon : Schwalbe line detached into AC
Iris stromal hypoplasia & ectropion uvea
Corectopia & full thickness iris defect
Microcornea & corneal opacity
Glaucoma
: 50 %, early childhood & early adulthood
Associated angle anomaly & 2nd synechial closure

7. Rieger anomaly & syndrome
Iris stromal hypoplasia & ectropion uvea
Corectopia & full thickness iris defect
Severe iris atrophy

8. Rieger anomaly & syndrome
Gonioscopy
: Extensive peripheral anterior synechiae
Facial & dental anomaly in Rieger syndrome

9. Rieger syndrome Dental Facial Hypodontia Microdontia
Maxillary hypolasia
Broad nasal bridge
Telecanthus
Hypertelorism

10. Rieger syndrome Other Redundant paraumbilical skin & hypospodias
Hearing loss
Hydrocephalus
Cardiac or renal anomaly
Congenital hip dislocation

11. Treatment Medical treatment Decrease aqueous output
(ß-blocker, α-agonist, carbonic anhydrase inhibitor)
Surgical intervention
Goniotomy
Trabeculectomy (Procedure of choice)

12. References
Simone Dressler, Philipp Meyer-Marcotty, Nicole Weisschuh, Anahita Jablonski, Klaus Pieper, Gwendolyn Gramer, and Eugen Gramer
Dental and craniofacial anomalies associated with Axenfeld-Rieger syndrome with PITX2 mutation
Case report in medicine /2010/621984
Myron Yanoff, Jay S. Duker, Opthalmology 2nd ed