Download P426 Axenfeld Rieger Syndrome case presentation Maja Petrovic

P426
Axenfeld Rieger Syndrome case presentation
Maja Petrovic, Marija Radenkovic, Predrag Jovanovic, Jasmina Djordjevic Jocic, Marija Trenkic Bozinovic,
Sasa Novak, Aleksandar Veselinovic
Eye Clinic Clinical Center Nis, Nis - Serbia
Purpose: Axenfeld-Rieger syndrome consists of a heterogeneous group of developmental eye disorders
(iridocorneal dysgenesis). Common eye disorders include corneal, iris defects and glaucoma in 50% of affected
individuals. Other associated developmental defects involve dental (microdontia, hypodontia, oligodontia, adontia),
craniofacial malformations (maxillary hypoplasia, hypertelorisam, hearing loss, heart defect) and redundant
periumbilical skin. Syndrome is a result of abnormality in fetal neural crest cell development. Three types of
Axenfeld-Rieger syndrome are described (type I is caused by mutations in the PITX2 gene, type 2-FOXO1A
on 13 chromosome, type 3- by mutations in the FOXC1 gene). Glaucoma develops due to angle anomaly or
secondary sinechial closure. Histologically, patients with ARS have been found to have a monolayer of endotheiliallike cells extending from the cornea, across the anterior chamber and angle structures onto the surface of the iris.
Methods: Patient R.J. 65 years old, female. Early adult onset with pain, photophobia, redness in left eye. VOD =
anophthalmus, VOS = 0.1, TOS = 36 mmHg, Diurnal curve TOS = 28-38 mmHg, Slit lamp OD Primary agenesis
of eye ball, Slit lamp OS Microcornea, sectorial iris atrophy, corectopia, embriotoxon posterior, coloboma lentis
in nasal part, opacification of posterior cortex. DIA Corneae 10 mm. Gonioscopy OS Open angle, III gradus
(Shaffer), PAS and prominent Schwalbe line from 7-9 o clock, pigmentation IV gradus (Shaffer). Ophtalmoscopy
FOS C/D = 0.6/II. LAX OS 19.50 mm. Keratometry OS 48.00/51.00. SAP (Humphrey) OS General reduction of
sensitivity, Rohene nasal step, relative paracentral scotoma.
Results: Dg: OD Anophthalmus congenita OS Microphthalmus, Microcornea, Cataracta congenita complicata,
Coloboma lentis, Glaucoma secundum medicamentosum compensatum. Administered therapy for OS (timolol,
brinsolamide, latanoprost) lowered IOP to 19mmHg.
Conclusion: Based on clinical representation (dental malformation and eye abnormalities) ICE Sy (AxenfeldRieger type) is confirmed without genetic verification.