Axenfeld-Rieger syndrome 2010.05.24 Axenfeld-Rieger syndrome 소아안과 conference Inst. 박신혜 /R2 조순영

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

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

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

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

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

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

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

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

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

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

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 10.1155/2010/621984 Myron Yanoff, Jay S. Duker, Opthalmology 2nd ed. 1527-1528